Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COL3A1_chr2_188969373_189017746	189007151	TATAGATA others(16): Show TATAGATAGATGATAGATAGATAG	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0116 a0001c0001t0009g0116	1	376	0.0027	-23	c.325 others(40): Show c.3255+172_3255+194delGATAGATAGATAGATAGATAGAT	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	44/50		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A1_chr13_110143963_110312157	110252445	GTATATGT others(16): Show GTATATGTATTATATACATATAAT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02015.hp2 HG02451.hp1 others(13): Show HG01891.hp2 HG02015.hp2 HG02451.hp1 HG02486.hp2 HG02717.hp1 HG02886.hp1 HG02976.hp1 HG03225.hp2 NA18747.hp2 NA18906.hp2 NA18953.hp1 NA18957.hp2 NA18981.hp2 NA18992.hp1 NA19074.hp1 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0003 a0001c0016 others(11): Show a0001c0001 a0001c0003 a0001c0016 a0001c0076 a0002c0002 a0002c0004 a0002c0024 a0002c0030 a0002c0031 a0003c0012 a0003c0098 a0004c0017 a0004c0068 a0006c0042	a0001c0001t0001 a0001c0003t0001 a0001c0016t0003 others(11): Show a0001c0001t0001 a0001c0003t0001 a0001c0016t0003 a0001c0076t0003 a0002c0002t0002 a0002c0004t0007 a0002c0024t0002 a0002c0030t0003 a0002c0031t0001 a0003c0012t0002 a0003c0098t0003 a0004c0017t0005 a0004c0068t0001 a0006c0042t0002	a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0001g0082 others(13): Show a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0001g0082 a0001c0003t0001g0095 a0001c0016t0003g0006 a0001c0076t0003g0078 a0002c0002t0002g0275 a0002c0004t0007g0174 a0002c0024t0002g0276 a0002c0030t0003g0188 a0002c0031t0001g0194 a0003c0012t0002g0279 a0003c0098t0003g0206 a0004c0017t0005g0073 a0004c0068t0001g0136 a0006c0042t0002g0278	16	344	0.0465	-23	c.85- others(38): Show c.85-9734_85-9712delATTATATGTATATAATACATATA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A4_chr2_226997714_227169205	227102885	ACAATATT others(16): Show ACAATATTTCAGCAATAGGGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(166): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18939.hp2 NA18941.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18952.hp1 NA18952.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp2 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19084.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(29): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0021 a0023 a0026 a0029 a0030 a0031 a0032 a0034 a0035 a0037 a0039 a0040 a0042 a0043	a0001c0001 a0001c0070 a0001c0072 others(43): Show a0001c0001 a0001c0070 a0001c0072 a0002c0002 a0002c0058 a0002c0059 a0002c0060 a0003c0003 a0003c0014 a0003c0026 a0003c0027 a0003c0073 a0004c0004 a0004c0051 a0005c0007 a0005c0045 a0005c0071 a0006c0005 a0006c0035 a0007c0006 a0008c0008 a0009c0009 a0010c0018 a0012c0011 a0013c0013 a0014c0020 a0014c0052 a0015c0024 a0016c0064 a0017c0022 a0018c0023 a0019c0025 a0021c0016 a0023c0039 a0026c0050 a0029c0063 a0030c0062 a0031c0061 a0032c0057 a0034c0056 a0035c0037 a0037c0066 a0039c0067 a0040c0074 a0042c0034 a0043c0036	a0001c0001t0001 a0001c0001t0017 a0001c0001t0019 others(61): Show a0001c0001t0001 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0070t0039 a0001c0072t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0011 a0002c0002t0026 a0002c0002t0027 a0002c0058t0005 a0002c0059t0025 a0002c0060t0002 a0003c0003t0003 a0003c0003t0031 a0003c0014t0002 a0003c0026t0001 a0003c0027t0003 a0003c0073t0003 a0004c0004t0002 a0004c0004t0005 a0004c0004t0037 a0004c0051t0005 a0005c0007t0002 a0005c0007t0005 a0005c0045t0003 a0005c0071t0005 a0006c0005t0004 a0006c0035t0036 a0007c0006t0004 a0007c0006t0035 a0008c0008t0004 a0008c0008t0009 a0009c0009t0001 a0010c0018t0004 a0012c0011t0003 a0013c0013t0006 a0014c0020t0001 a0014c0052t0003 a0015c0024t0002 a0015c0024t0012 a0016c0064t0005 a0017c0022t0003 a0018c0023t0002 a0019c0025t0002 a0021c0016t0014 a0023c0039t0007 a0026c0050t0001 a0029c0063t0003 a0030c0062t0003 a0031c0061t0002 a0032c0057t0002 a0034c0056t0001 a0035c0037t0016 a0037c0066t0012 a0039c0067t0028 a0040c0074t0018 a0042c0034t0004 a0043c0036t0038	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0031 others(165): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0180 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0229 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0249 a0001c0001t0001g0258 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0017g0002 a0001c0001t0019g0126 a0001c0001t0022g0119 a0001c0001t0023g0131 a0001c0001t0024g0132 a0001c0070t0039g0204 a0001c0072t0001g0238 a0002c0002t0002g0009 a0002c0002t0002g0013 a0002c0002t0002g0036 a0002c0002t0002g0051 a0002c0002t0002g0066 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0088 a0002c0002t0002g0092 a0002c0002t0002g0098 a0002c0002t0002g0112 a0002c0002t0002g0177 a0002c0002t0002g0188 a0002c0002t0002g0203 a0002c0002t0002g0205 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0266 a0002c0002t0004g0149 a0002c0002t0005g0142 a0002c0002t0005g0215 a0002c0002t0007g0049 a0002c0002t0007g0184 a0002c0002t0007g0225 a0002c0002t0011g0222 a0002c0002t0026g0232 a0002c0002t0027g0201 a0002c0058t0005g0214 a0002c0059t0025g0037 a0002c0060t0002g0252 a0003c0003t0003g0004 a0003c0003t0003g0005 a0003c0003t0003g0006 a0003c0003t0003g0084 a0003c0003t0003g0093 a0003c0003t0003g0099 a0003c0003t0003g0116 a0003c0003t0003g0118 a0003c0003t0003g0128 a0003c0003t0003g0129 a0003c0003t0003g0130 a0003c0003t0003g0190 a0003c0003t0003g0223 a0003c0003t0003g0241 a0003c0003t0003g0269 a0003c0003t0031g0250 a0003c0014t0002g0094 a0003c0014t0002g0242 a0003c0026t0001g0010 a0003c0026t0001g0230 a0003c0027t0003g0133 a0003c0073t0003g0018 a0004c0004t0002g0042 a0004c0004t0002g0147 a0004c0004t0002g0260 a0004c0004t0005g0030 a0004c0004t0005g0234 a0004c0004t0037g0062 a0004c0051t0005g0023 a0005c0007t0002g0240 a0005c0007t0005g0067 a0005c0007t0005g0121 a0005c0007t0005g0134 a0005c0045t0003g0061 a0005c0071t0005g0237 a0006c0005t0004g0148 a0006c0005t0004g0191 a0006c0005t0004g0193 a0006c0005t0004g0195 a0006c0035t0036g0270 a0007c0006t0004g0171 a0007c0006t0004g0172 a0007c0006t0004g0173 a0007c0006t0035g0163 a0008c0008t0004g0027 a0008c0008t0004g0161 a0008c0008t0004g0164 a0008c0008t0009g0271 a0009c0009t0001g0016 a0009c0009t0001g0017 a0009c0009t0001g0055 a0010c0018t0004g0157 a0010c0018t0004g0162 a0012c0011t0003g0219 a0012c0011t0003g0231 a0012c0011t0003g0233 a0013c0013t0006g0212 a0014c0020t0001g0007 a0014c0052t0003g0089 a0015c0024t0002g0120 a0015c0024t0012g0221 a0016c0064t0005g0178 a0017c0022t0003g0254 a0017c0022t0003g0255 a0018c0023t0002g0127 a0019c0025t0002g0198 a0019c0025t0002g0261 a0021c0016t0014g0278 a0023c0039t0007g0012 a0026c0050t0001g0081 a0029c0063t0003g0082 a0030c0062t0003g0265 a0031c0061t0002g0021 a0032c0057t0002g0220 a0034c0056t0001g0064 a0035c0037t0016g0003 a0037c0066t0012g0059 a0039c0067t0028g0235 a0040c0074t0018g0045 a0042c0034t0004g0274 a0043c0036t0038g0153	169	284	0.5951	-23	c.871 others(36): Show c.871-60_871-38delCTTTCCCTATTGCTGAAATATTG	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	14/47			chr2	TogoVar
COL4A5_chrX_108434838_108702545	108526656	CTTTCTTC others(16): Show CTTTCTTCTTTCTTTCTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02818.hp2 HG03041.hp1 HG02109.hp1 HG02818.hp2 HG03041.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0163 a0002c0002t0001g0038 a0002c0002t0001g0065 a0001c0001t0001g0163 a0002c0002t0001g0038 a0002c0002t0001g0065	3	269	0.0112	-23	c.82- others(40): Show c.82-13088_82-13066delTTCTTCTTTCTTTCTCTTTCTTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108526660	CTTCTTTC others(16): Show CTTCTTTCTTTCTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01123.hp2 HG02886.hp2 HG00733.hp1 HG01123.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0193 a0001c0001t0001g0208 a0001c0001t0001g0139 a0001c0001t0001g0193 a0001c0001t0001g0208	3	269	0.0112	-23	c.82- others(40): Show c.82-13084_82-13062delTCTTTCTTTCTCTTTCTTTCTTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL5A1_chr9_134636803_134849843	134684916	TCCATCCA others(16): Show TCCATCCATTCATCCATCCATCCA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01943.hp1 HG02451.hp1 others(7): Show HG01243.hp1 HG01943.hp1 HG02451.hp1 HG02572.hp1 HG02647.hp1 HG02717.hp2 HG02735.hp1 HG03471.hp1 HG03669.hp2 HG06807.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009 a0001c0015 a0013c0055	a0001c0001t0009 a0001c0003t0003 a0001c0003t0010 others(7): Show a0001c0001t0009 a0001c0003t0003 a0001c0003t0010 a0001c0005t0009 a0001c0005t0014 a0001c0005t0045 a0001c0005t0050 a0001c0009t0001 a0001c0015t0001 a0013c0055t0007	a0001c0001t0009g0233 a0001c0003t0003g0255 a0001c0003t0010g0259 others(7): Show a0001c0001t0009g0233 a0001c0003t0003g0255 a0001c0003t0010g0259 a0001c0005t0009g0256 a0001c0005t0014g0258 a0001c0005t0045g0267 a0001c0005t0050g0271 a0001c0009t0001g0198 a0001c0015t0001g0268 a0013c0055t0007g0257	10	272	0.0368	-23	c.110 others(40): Show c.110-5964_110-5942delTCATCCATCCATCCACCATCCAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A3_chr19_9954561_10015504	9964854	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0337 a0002c0002t0002g0337	1	412	0.0024	-23	c.478 others(42): Show c.4782+1437_4782+1459delTTTTTTTTTTTTTTTTTTTTTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	64/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9983521	AAAAGAAA others(16): Show AAAAGAAAGAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0035 a0035	a0035c0047 a0035c0047	a0035c0047t0001 a0035c0047t0001	a0035c0047t0001g0275 a0035c0047t0001g0276 a0035c0047t0001g0275 a0035c0047t0001g0276	2	412	0.0049	-23	c.240 others(42): Show c.2407-1426_2407-1404delCTTTCTTTCTTTCTTCTTTCTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	31/66			chr19	TogoVar
COL6A1_chr21_45976770_46010048	45988211	GGGGGTCC others(16): Show GGGGGTCCAGATGGAGGGGACGGC	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0005 a0005	a0005c0023 a0005c0023	a0005c0023t0001 a0005c0023t0001	a0005c0023t0001g0060 a0005c0023t0001g0060	1	128	0.0078	-23	c.804 others(38): Show c.804+676_804+698delGTCCAGATGGAGGGGACGGCGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46122713	TCCCTTTT others(16): Show TCCCTTTTCAACCAAAGTTCAGGC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	372	0.0027	-23	c.160 others(40): Show c.1609-161_1609-139delCCCTTTTCAACCAAAGTTCAGGC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	20/27			chr21	TogoVar
COL6A2_chr21_46093112_46134801	46124017	ATGAGTGG others(16): Show ATGAGTGGATGGACAGACGGACAG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00597.hp2 others(90): Show HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01074.hp2 HG01168.hp1 HG01169.hp1 HG01952.hp2 HG01975.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02165.hp1 HG02630.hp1 HG02723.hp1 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 NA18747.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18998.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0002 a0001c0013 a0001c0014 others(9): Show a0001c0002 a0001c0013 a0001c0014 a0001c0019 a0001c0025 a0001c0027 a0001c0031 a0003c0004 a0003c0007 a0003c0017 a0003c0041 a0007c0042	a0001c0002t0002 a0001c0002t0005 a0001c0002t0010 others(14): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0010 a0001c0002t0012 a0001c0002t0013 a0001c0013t0002 a0001c0014t0002 a0001c0019t0002 a0001c0025t0002 a0001c0027t0003 a0001c0031t0002 a0003c0004t0001 a0003c0004t0002 a0003c0007t0002 a0003c0017t0002 a0003c0041t0002 a0007c0042t0002	a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0006 others(74): Show a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0006 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0286 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0293 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0306 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0002g0311 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0318 a0001c0002t0002g0319 a0001c0002t0002g0320 a0001c0002t0002g0322 a0001c0002t0002g0324 a0001c0002t0002g0326 a0001c0002t0002g0327 a0001c0002t0002g0331 a0001c0002t0002g0332 a0001c0002t0002g0333 a0001c0002t0005g0292 a0001c0002t0010g0123 a0001c0002t0010g0294 a0001c0002t0010g0295 a0001c0002t0010g0325 a0001c0002t0012g0288 a0001c0002t0013g0291 a0001c0013t0002g0001 a0001c0013t0002g0275 a0001c0014t0002g0321 a0001c0014t0002g0323 a0001c0019t0002g0017 a0001c0025t0002g0282 a0001c0027t0003g0252 a0001c0031t0002g0299 a0003c0004t0001g0312 a0003c0004t0002g0044 a0003c0004t0002g0260 a0003c0004t0002g0314 a0003c0004t0002g0328 a0003c0007t0002g0022 a0003c0017t0002g0310 a0003c0017t0002g0313 a0003c0041t0002g0261 a0007c0042t0002g0287	93	372	0.2500	-23	c.167 others(40): Show c.1672-631_1672-609delAGTGGATGGACAGACGGACAGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46122713	TCCCTTTT others(16): Show TCCCTTTTCAACCAAAGTTCAGGC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	364	0.0028	-23	c.160 others(40): Show c.1609-161_1609-139delCCCTTTTCAACCAAAGTTCAGGC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	20/27			chr21	TogoVar
COL6A2_chr21_46093112_46137848	46124017	ATGAGTGG others(16): Show ATGAGTGGATGGACAGACGGACAG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00597.hp2 others(88): Show HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01074.hp2 HG01168.hp1 HG01169.hp1 HG01952.hp2 HG01975.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02165.hp1 HG02630.hp1 HG02723.hp1 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 NA18747.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18998.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp2 NA19083.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0010	a0001c0002 a0001c0023 a0001c0024 others(11): Show a0001c0002 a0001c0023 a0001c0024 a0001c0033 a0001c0042 a0001c0043 a0001c0046 a0001c0050 a0003c0010 a0003c0016 a0003c0063 a0005c0017 a0005c0065 a0010c0066	a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 others(18): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0023t0001 a0001c0024t0002 a0001c0033t0002 a0001c0042t0002 a0001c0043t0002 a0001c0046t0001 a0001c0050t0002 a0003c0010t0001 a0003c0010t0002 a0003c0016t0002 a0003c0063t0001 a0005c0017t0002 a0005c0065t0002 a0010c0066t0002	a0001c0002t0001g0322 a0001c0002t0002g0001 a0001c0002t0002g0004 others(75): Show a0001c0002t0001g0322 a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0123 a0001c0002t0002g0252 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0282 a0001c0002t0002g0284 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0305 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0002g0313 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0319 a0001c0002t0002g0321 a0001c0002t0002g0323 a0001c0002t0002g0324 a0001c0002t0002g0329 a0001c0002t0008g0017 a0001c0002t0009g0330 a0001c0002t0012g0018 a0001c0002t0013g0314 a0001c0002t0014g0328 a0001c0023t0001g0250 a0001c0023t0001g0251 a0001c0024t0002g0318 a0001c0024t0002g0320 a0001c0033t0002g0018 a0001c0042t0002g0295 a0001c0043t0002g0285 a0001c0046t0001g0249 a0001c0050t0002g0298 a0003c0010t0001g0310 a0003c0010t0002g0325 a0003c0016t0002g0023 a0003c0063t0001g0046 a0005c0017t0002g0257 a0005c0017t0002g0258 a0005c0017t0002g0312 a0005c0065t0002g0311 a0010c0066t0002g0283	91	364	0.2500	-23	c.167 others(40): Show c.1672-631_1672-609delAGTGGATGGACAGACGGACAGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A3_chr2_237319018_237419164	237343514	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA19058.hp1 NA18954.hp1 NA19058.hp1	a0002 a0002	a0002c0001 a0002c0106 a0002c0001 a0002c0106	a0002c0001t0001 a0002c0106t0002 a0002c0001t0001 a0002c0106t0002	a0002c0001t0001g0301 a0002c0106t0002g0231 a0002c0001t0001g0301 a0002c0106t0002g0231	2	322	0.0062	-23	c.766 others(40): Show c.7668+813_7668+835delTTTTTTTTTTTTTTTTTTTTTTT	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	36/43			chr2	TogoVar
COL6A5_chr3_130340672_130489846	130362308	ATATATAT others(16): Show ATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01256.hp1 HG02080.hp1 others(5): Show HG00280.hp2 HG01256.hp1 HG02080.hp1 HG02895.hp1 HG03654.hp1 HG04184.hp2 NA19081.hp2 NA19085.hp1	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0036 a0064	a0001c0001 a0001c0014 a0001c0082 others(4): Show a0001c0001 a0001c0014 a0001c0082 a0002c0002 a0007c0081 a0036c0030 a0064c0061	a0001c0001t0002 a0001c0014t0002 a0001c0082t0002 others(4): Show a0001c0001t0002 a0001c0014t0002 a0001c0082t0002 a0002c0002t0002 a0007c0081t0002 a0036c0030t0002 a0064c0061t0002	a0001c0001t0002g0224 a0001c0001t0002g0254 a0001c0014t0002g0255 others(5): Show a0001c0001t0002g0224 a0001c0001t0002g0254 a0001c0014t0002g0255 a0001c0082t0002g0253 a0002c0002t0002g0227 a0007c0081t0002g0262 a0036c0030t0002g0213 a0064c0061t0002g0267	8	292	0.0274	-23	c.-28 others(42): Show c.-28-11301_-28-11279delATATATATATATATATATTTTTT	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130362310	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG00642.hp1 others(50): Show HG00408.hp1 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01167.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01358.hp1 HG01433.hp1 HG01978.hp2 HG01981.hp1 HG02040.hp2 HG02165.hp1 HG02165.hp2 HG02300.hp1 HG02300.hp2 HG02630.hp2 HG02683.hp2 HG02735.hp2 HG02738.hp2 HG02965.hp2 HG03017.hp1 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp2 HG03688.hp2 HG03704.hp2 HG04199.hp1 HG04204.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18972.hp2 NA18975.hp1 NA19001.hp1 NA19003.hp2 NA19010.hp2 NA19055.hp2 NA19060.hp1 NA19066.hp2 NA19070.hp1 NA19077.hp2 NA20300.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0006 a0017 a0026 a0027 a0032 a0036 a0049 a0057 a0091	a0001c0001 a0001c0014 a0001c0040 others(13): Show a0001c0001 a0001c0014 a0001c0040 a0002c0034 a0003c0004 a0003c0025 a0004c0003 a0006c0005 a0017c0019 a0026c0038 a0027c0090 a0032c0100 a0036c0030 a0049c0093 a0057c0098 a0091c0078	a0001c0001t0001 a0001c0001t0002 a0001c0014t0002 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0014t0002 a0001c0040t0002 a0002c0034t0002 a0003c0004t0002 a0003c0025t0002 a0004c0003t0002 a0006c0005t0002 a0006c0005t0003 a0017c0019t0002 a0026c0038t0002 a0027c0090t0002 a0032c0100t0002 a0036c0030t0002 a0049c0093t0007 a0057c0098t0002 a0091c0078t0002	a0001c0001t0001g0186 a0001c0001t0002g0219 a0001c0001t0002g0220 others(48): Show a0001c0001t0001g0186 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0251 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0014t0002g0185 a0001c0014t0002g0201 a0001c0014t0002g0238 a0001c0014t0002g0250 a0001c0014t0002g0264 a0001c0040t0002g0240 a0001c0040t0002g0241 a0002c0034t0002g0231 a0003c0004t0002g0221 a0003c0025t0002g0257 a0004c0003t0002g0236 a0006c0005t0002g0008 a0006c0005t0002g0230 a0006c0005t0002g0252 a0006c0005t0003g0081 a0017c0019t0002g0009 a0017c0019t0002g0248 a0017c0019t0002g0249 a0026c0038t0002g0261 a0026c0038t0002g0263 a0027c0090t0002g0280 a0032c0100t0002g0232 a0036c0030t0002g0212 a0049c0093t0007g0184 a0057c0098t0002g0270 a0091c0078t0002g0276	53	292	0.1815	-23	c.-28 others(42): Show c.-28-11299_-28-11277delATATATATATATATATTTTTTTT	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130590289	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01192.hp1 HG00642.hp1 HG01192.hp1	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0001 a0011c0008t0001	a0011c0008t0001g0125 a0011c0008t0001g0126 a0011c0008t0001g0125 a0011c0008t0001g0126	2	264	0.0076	-23	c.421 others(40): Show c.4219-750_4219-728delATATATATATTTTTTTTTTTTTT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130590293	ATATATAT others(16): Show ATATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18968.hp2 NA19058.hp2 others(1): Show NA18945.hp2 NA18968.hp2 NA19058.hp2 NA19064.hp1	a0004 a0013 a0004 a0013	a0004c0004 a0013c0012 a0004c0004 a0013c0012	a0004c0004t0001 a0004c0004t0002 a0013c0012t0006 a0004c0004t0001 a0004c0004t0002 a0013c0012t0006	a0004c0004t0001g0206 a0004c0004t0002g0038 a0004c0004t0002g0039 others(1): Show a0004c0004t0001g0206 a0004c0004t0002g0038 a0004c0004t0002g0039 a0013c0012t0006g0040	4	264	0.0152	-23	c.421 others(40): Show c.4219-746_4219-724delATATATTTTTTTTTTTTTTTTTT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130590295	ATATATTT others(16): Show ATATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0006 a0013c0012t0006	a0013c0012t0006g0086 a0013c0012t0006g0086	1	264	0.0038	-23	c.421 others(40): Show c.4219-744_4219-722delATATTTTTTTTTTTTTTTTTTTT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL9A2_chr1_40295489_40322286	40321124	TATATATA others(16): Show TATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 NA20129.hp1 HG03130.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0148 a0001c0001t0001g0022 a0001c0001t0001g0148	2	438	0.0046	-23	c.-39 others(34): Show c.-3950_-3928delTATATATATATATATATATATAT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3839		chr1	TogoVar
COLEC10_chr8_119062247_119113455	119069620	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02622.hp1 HG02717.hp1 others(9): Show HG02165.hp2 HG02622.hp1 HG02717.hp1 HG02895.hp1 NA18945.hp2 NA18960.hp2 NA19002.hp2 NA19010.hp2 NA19012.hp1 NA19058.hp1 NA19063.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0051 a0001c0001t0003g0052 others(7): Show a0001c0001t0003g0001 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068	12	388	0.0309	-23	c.148 others(40): Show c.148+2193_148+2215delAAAAAAAAATATATATATATATA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119069622	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp2 HG01243.hp1 others(25): Show HG00408.hp2 HG00609.hp2 HG01243.hp1 HG02129.hp2 HG02280.hp1 HG03453.hp2 HG03579.hp1 NA18612.hp2 NA18939.hp1 NA18943.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18959.hp2 NA18962.hp1 NA18965.hp2 NA18973.hp1 NA18974.hp2 NA18978.hp2 NA18979.hp1 NA18998.hp2 NA19004.hp2 NA19055.hp2 NA19068.hp2 NA19070.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0011	a0001c0001t0001g0018 a0001c0001t0003g0003 a0001c0001t0003g0004 others(21): Show a0001c0001t0001g0018 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0036 a0001c0001t0008g0368 a0001c0001t0011g0035	28	388	0.0722	-23	c.148 others(40): Show c.148+2195_148+2217delAAAAAAATATATATATATATATA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119069624	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03139.hp1 HG02886.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0021 a0001c0001t0008 a0001c0001t0021	a0001c0001t0008g0366 a0001c0001t0021g0367 a0001c0001t0008g0366 a0001c0001t0021g0367	2	388	0.0052	-23	c.148 others(40): Show c.148+2197_148+2219delAAAAATATATATATATATATATA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC11_chr2_3590112_3649644	3616753	AGAGAGGG others(16): Show AGAGAGGGAGAGGGAGACCGTGGG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp1 HG03471.hp1 HG01891.hp1 HG02258.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0206 a0002c0002t0001g0221 a0002c0002t0001g0318 a0002c0002t0001g0206 a0002c0002t0001g0221 a0002c0002t0001g0318	3	378	0.0079	-23	c.202 others(40): Show c.202+3412_202+3434delCGTGGGGAGAGGGAGAGGGAGAC	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
COLEC11_chr2_3590112_3649644	3616794	CGTGGGGA others(16): Show CGTGGGGAGAGGGAGAGGGAGACT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02886.hp1 HG03579.hp2 HG02647.hp1 HG02886.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0319 a0001c0001t0001g0323 a0002c0002t0001g0191 a0001c0001t0001g0319 a0001c0001t0001g0323 a0002c0002t0001g0191	3	378	0.0079	-23	c.202 others(40): Show c.202+3430_202+3452delGAGACTGTGGGGAGAGGGAGAGG	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
COLEC12_chr18_311737_505701	435414	TATAAAAC others(16): Show TATAAAACCACCAGATCTCGTGAG	T T	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0240 a0002c0001t0240	a0002c0001t0240g0058 a0002c0001t0240g0058	1	366	0.0027	-23	c.58+ others(40): Show c.58+45270_58+45292delCTCACGAGATCTGGTGGTTTTAT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9			chr18	TogoVar
COPS5_chr8_67038079_67067133	67056649	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	292	0.0034	-23	c.574 others(36): Show c.574-68_574-46delATATATATATATATATATATTTT	COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	4/7			chr8	TogoVar
COPS5_chr8_67038079_67067133	67056651	AAATATAT others(16): Show AAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01175.hp1 HG01175.hp2 others(8): Show HG00735.hp1 HG01175.hp1 HG01175.hp2 HG02074.hp2 HG02080.hp1 NA18612.hp1 NA18954.hp2 NA18968.hp1 NA18974.hp1 NA19064.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0084 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088	11	292	0.0377	-23	c.574 others(36): Show c.574-70_574-48delATATATATATATATATATATATT	COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	4/7			chr8	TogoVar
COPS5_chr8_67038079_67067133	67056653	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp2 HG01884.hp1 others(13): Show HG00140.hp2 HG01070.hp2 HG01884.hp1 HG02080.hp2 HG02132.hp1 HG02280.hp2 HG02615.hp1 HG02922.hp2 HG02965.hp1 HG03139.hp2 HG03195.hp1 HG03654.hp1 HG03669.hp2 HG03710.hp2 NA18522.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(10): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0178	16	292	0.0548	-23	c.574 others(36): Show c.574-72_574-50delATATATATATATATATATATATA	COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	4/7			chr8	TogoVar
COQ10B_chr2_197448552_197480310	197463953	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0298 a0001c0001t0003g0298	1	390	0.0026	-23	c.447 others(40): Show c.447+1224_447+1246delAAAAAAAAAAATATATATATATA	COQ10B	ENSG00000115520.9	transcript	ENST00000263960.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
COQ3_chr6_99364401_99399195	99378137	TATATATA others(16): Show TATATATATATATATATATATTTA	T T	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0343 a0002c0002t0002g0343	1	434	0.0023	-23	c.387 others(38): Show c.387-675_387-653delTAAATATATATATATATATATAT	COQ3	ENSG00000132423.12	transcript	ENST00000254759.8	protein_coding	3/6			chr6	TogoVar
CORO1C_chr12_108640109_108736518	108685295	TACTAGAG others(16): Show TACTAGAGCTCAACATTTTCTCTG	T T	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	326	0.0031	-23	c.196 others(40): Show c.196-6924_196-6902delCAGAGAAAATGTTGAGCTCTAGT	CORO1C	ENSG00000110880.11	transcript	ENST00000261401.8	protein_coding	2/10			chr12	TogoVar
CORO2A_chr9_98115975_98197637	98192811	GGGGCGCG others(16): Show GGGGCGCGCACACGTGCTGGGAAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0122 a0001c0001t0003g0122	1	342	0.0029	-23	c.-27 others(32): Show c.-276_-254delGTTCCCAGCACGTGTGCGCGCCC	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding		175		chr9	TogoVar
CORO2B_chr15_68573993_68732806	68650355	CTAAAAAA others(16): Show CTAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp1 HG02135.hp2 others(5): Show HG01074.hp1 HG01099.hp1 HG02135.hp2 HG03540.hp2 HG03669.hp2 HG03942.hp1 NA19060.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0002	a0001c0001t0002g0167 a0001c0001t0003g0082 a0001c0001t0003g0174 others(5): Show a0001c0001t0002g0167 a0001c0001t0003g0082 a0001c0001t0003g0174 a0001c0001t0003g0239 a0001c0001t0004g0133 a0001c0001t0005g0072 a0001c0001t0005g0073 a0001c0002t0002g0171	8	256	0.0313	-23	c.216 others(40): Show c.216+4996_216+5018delTAAAAAAAAAAAAAAAAAAAAAA	CORO2B	ENSG00000103647.13	transcript	ENST00000261861.10	protein_coding	2/11			chr15	TogoVar
CORO6_chr17_29609762_29627912	29613035	AGAACCCG others(16): Show AGAACCCGCGGGGCCCTCGGCAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp1 NA19058.hp1 NA19065.hp2 others(2): Show NA18939.hp1 NA19058.hp1 NA19065.hp2 NA19079.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	5	366	0.0137	-23	c.26 others(34): Show c.2674_*2696delCCTGCCGAGGGCCCCGCGGGTTC	CORO6	ENSG00000167549.19	transcript	ENST00000388767.8	protein_coding		1726		chr17	TogoVar
COX10_chr17_14064504_14213677	14210395	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00597.hp2 others(109): Show HG00099.hp1 HG00323.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01934.hp1 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02523.hp1 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG04115.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18959.hp2 NA18963.hp2 NA18965.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp2 NA18974.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp2 NA18985.hp1 NA19000.hp2 NA19002.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19056.hp2 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19080.hp2 NA19086.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0003 a0001c0004 others(18): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0002c0002 a0002c0005 a0002c0006 a0002c0008 a0003c0009 a0003c0010 a0003c0011 a0003c0014 a0003c0017 a0003c0029 a0003c0030 a0004c0018 a0005c0013 a0006c0016 a0007c0027 a0008c0026 a0009c0028	a0001c0001t0003 a0001c0003t0001 a0001c0003t0002 others(37): Show a0001c0001t0003 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0025 a0001c0007t0003 a0001c0007t0004 a0001c0007t0005 a0001c0007t0013 a0002c0002t0001 a0002c0002t0002 a0002c0005t0003 a0002c0005t0004 a0002c0006t0001 a0002c0006t0003 a0002c0006t0004 a0002c0008t0001 a0002c0008t0002 a0002c0008t0003 a0003c0009t0006 a0003c0009t0007 a0003c0010t0001 a0003c0010t0006 a0003c0011t0003 a0003c0011t0009 a0003c0011t0017 a0003c0014t0001 a0003c0017t0003 a0003c0029t0002 a0003c0030t0003 a0004c0018t0001 a0004c0018t0003 a0005c0013t0003 a0005c0013t0004 a0006c0016t0012 a0007c0027t0009 a0008c0026t0001 a0009c0028t0003	a0001c0001t0003g0019 a0001c0001t0003g0028 a0001c0001t0003g0029 others(108): Show a0001c0001t0003g0019 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0099 a0001c0001t0003g0106 a0001c0001t0003g0108 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0135 a0001c0001t0003g0137 a0001c0001t0003g0143 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0152 a0001c0001t0003g0156 a0001c0003t0001g0032 a0001c0003t0001g0148 a0001c0003t0002g0006 a0001c0003t0002g0009 a0001c0003t0002g0071 a0001c0003t0002g0072 a0001c0004t0001g0283 a0001c0004t0001g0284 a0001c0004t0001g0285 a0001c0004t0001g0286 a0001c0004t0001g0287 a0001c0004t0002g0017 a0001c0004t0002g0027 a0001c0004t0002g0066 a0001c0004t0002g0070 a0001c0004t0002g0103 a0001c0004t0002g0133 a0001c0004t0002g0160 a0001c0004t0002g0282 a0001c0004t0003g0105 a0001c0004t0003g0167 a0001c0004t0025g0301 a0001c0007t0003g0124 a0001c0007t0003g0144 a0001c0007t0004g0024 a0001c0007t0004g0075 a0001c0007t0004g0220 a0001c0007t0005g0128 a0001c0007t0013g0129 a0001c0007t0013g0130 a0002c0002t0001g0002 a0002c0002t0001g0177 a0002c0002t0001g0183 a0002c0002t0001g0190 a0002c0002t0001g0200 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0260 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0002g0210 a0002c0005t0003g0187 a0002c0005t0003g0208 a0002c0005t0003g0264 a0002c0005t0004g0186 a0002c0005t0004g0191 a0002c0005t0004g0194 a0002c0005t0004g0231 a0002c0005t0004g0235 a0002c0005t0004g0244 a0002c0006t0001g0307 a0002c0006t0001g0309 a0002c0006t0003g0217 a0002c0006t0004g0193 a0002c0006t0004g0225 a0002c0006t0004g0232 a0002c0006t0004g0254 a0002c0008t0001g0271 a0002c0008t0001g0272 a0002c0008t0001g0273 a0002c0008t0002g0255 a0002c0008t0003g0242 a0002c0008t0003g0302 a0003c0009t0006g0090 a0003c0009t0007g0034 a0003c0009t0007g0048 a0003c0009t0007g0049 a0003c0009t0007g0050 a0003c0009t0007g0051 a0003c0009t0007g0052 a0003c0009t0007g0053 a0003c0009t0007g0054 a0003c0009t0007g0055 a0003c0010t0001g0096 a0003c0010t0006g0088 a0003c0011t0003g0033 a0003c0011t0003g0042 a0003c0011t0009g0043 a0003c0011t0017g0081 a0003c0014t0001g0046 a0003c0017t0003g0036 a0003c0029t0002g0047 a0003c0030t0003g0038 a0004c0018t0001g0060 a0004c0018t0003g0063 a0005c0013t0003g0116 a0005c0013t0003g0141 a0005c0013t0004g0139 a0006c0016t0012g0202 a0007c0027t0009g0209 a0008c0026t0001g0056 a0009c0028t0003g0041	112	322	0.3478	-23	c.31 others(34): Show c.3183_*3205delTTTTTTTTTTTTTTTTTTTTTTT	COX10	ENSG00000006695.12	transcript	ENST00000261643.8	protein_coding		1719		chr17	TogoVar
COX14_chr12_50107236_50125453	50118269	ACTCCTGA others(16): Show ACTCCTGACCTCAGGTGATCCACC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(214): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01109.hp1 HG01175.hp1 HG01243.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02300.hp2 HG02523.hp1 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02735.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19054.hp1 NA19054.hp2 NA19058.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(99): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0002g0075 a0001c0001t0002g0153	217	418	0.5191	-23	c.-8- others(38): Show c.-8-1761_-8-1739delGACCTCAGGTGATCCACCCTCCT	COX14	ENSG00000178449.9	transcript	ENST00000550487.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr12	TogoVar
COX19_chr7_959852_980549	975620	GCCCCTTG others(16): Show GCCCCTTGCCCAGGCCCGGCCCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02630.hp2 HG01891.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0040 a0001c0001t0040g0040	2	432	0.0046	-23	c.-13 others(32): Show c.-134_-112delTGGGGCCGGGCCTGGGCAAGGGG	COX19	ENSG00000240230.6	transcript	ENST00000344111.4	protein_coding		72		chr7	TogoVar
COX6C_chr8_99872865_99898707	99875818	CTGCCACC others(16): Show CTGCCACCATAAAGGGCTGCATTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01192.hp2 HG01358.hp2 others(1): Show HG01168.hp2 HG01192.hp2 HG01358.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0007 a0001c0001t0001g0023	4	356	0.0112	-23	c.24 others(34): Show c.2440_*2462delAAATGCAGCCCTTTATGGTGGCA	COX6C	ENSG00000164919.11	transcript	ENST00000520468.7	protein_coding		2046		chr8	TogoVar
COX8A_chr11_63969620_63981543	63975610	CTGTCACC others(16): Show CTGTCACCCAGGCTGGAGTGCAGT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	336	0.0030	-23	c.115 others(38): Show c.115-614_115-592delTGTCACCCAGGCTGGAGTGCAGT	COX8A	ENSG00000176340.4	transcript	ENST00000314133.4	protein_coding	1/1			chr11	TogoVar
CPEB1_chr15_82538201_82652363	82579918	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01070.hp2 HG01071.hp2 others(16): Show HG00323.hp1 HG01070.hp2 HG01071.hp2 HG01261.hp1 HG02109.hp1 HG02273.hp1 HG02572.hp1 HG02615.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03516.hp2 NA18906.hp1 NA19030.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0010 a0001c0001t0018 a0001c0001t0020 others(4): Show a0001c0001t0010 a0001c0001t0018 a0001c0001t0020 a0001c0001t0024 a0001c0001t0037 a0001c0001t0038 a0001c0006t0003	a0001c0001t0010g0110 a0001c0001t0010g0196 a0001c0001t0010g0197 others(15): Show a0001c0001t0010g0110 a0001c0001t0010g0196 a0001c0001t0010g0197 a0001c0001t0010g0228 a0001c0001t0010g0229 a0001c0001t0010g0352 a0001c0001t0018g0001 a0001c0001t0018g0084 a0001c0001t0020g0114 a0001c0001t0020g0198 a0001c0001t0020g0222 a0001c0001t0020g0223 a0001c0001t0024g0115 a0001c0001t0024g0116 a0001c0001t0024g0117 a0001c0001t0037g0118 a0001c0001t0038g0119 a0001c0006t0003g0111	19	354	0.0537	-23	c.272 others(40): Show c.272-8409_272-8387delTTTTTTTTTTTTTTTTTTTTTTT	CPEB1	ENSG00000214575.10	transcript	ENST00000684509.1	protein_coding	3/12			chr15	TogoVar
CPEB3_chr10_92041692_92296078	92258628	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG00642.hp2 others(34): Show HG00423.hp1 HG00609.hp1 HG00642.hp2 HG01070.hp1 HG01106.hp2 HG01109.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01261.hp1 HG01496.hp1 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02132.hp1 HG02135.hp2 HG02300.hp1 HG02451.hp1 HG02602.hp2 HG02683.hp2 HG03239.hp2 HG03491.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04199.hp2 NA18522.hp1 NA18950.hp1 NA18952.hp2 NA18961.hp1 NA18975.hp2 NA18979.hp1 NA19007.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0017 a0001c0001t0022 a0001c0001t0026 a0001c0001t0040 a0001c0002t0003 a0001c0002t0028	a0001c0001t0001g0111 a0001c0001t0002g0006 a0001c0001t0002g0125 others(34): Show a0001c0001t0001g0111 a0001c0001t0002g0006 a0001c0001t0002g0125 a0001c0001t0002g0129 a0001c0001t0002g0134 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0117 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0001t0003g0126 a0001c0001t0003g0130 a0001c0001t0003g0132 a0001c0001t0003g0218 a0001c0001t0009g0112 a0001c0001t0010g0110 a0001c0001t0010g0118 a0001c0001t0010g0119 a0001c0001t0017g0123 a0001c0001t0017g0128 a0001c0001t0017g0131 a0001c0001t0022g0116 a0001c0001t0026g0127 a0001c0001t0040g0276 a0001c0002t0003g0059 a0001c0002t0028g0061	37	278	0.1331	-23	c.-11 others(42): Show c.-11-18290_-11-18268delATATATATATATATATATATATA	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	1/9			chr10	TogoVar
CPLX1_chr4_779957_831129	826301	GGGGGGTG others(16): Show GGGGGGTGGACCCGGGGCGGGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG04204.hp2 NA19086.hp1 HG00597.hp1 HG04204.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0028 a0001c0001t0004 a0001c0001t0028	a0001c0001t0004g0085 a0001c0001t0004g0093 a0001c0001t0028g0042 a0001c0001t0004g0085 a0001c0001t0004g0093 a0001c0001t0028g0042	3	416	0.0072	-23	c.-35 others(32): Show c.-358_-336delGCCCCCGCCCCGGGTCCACCCCC	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		173		chr4	TogoVar
CPN2_chr3_194334768_194356328	194348188	GCCCAGTT others(16): Show GCCCAGTTCAGCCCACCACCCCCA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02922.hp1 HG03486.hp2 others(3): Show HG02257.hp1 HG02922.hp1 HG03486.hp2 HG06807.hp2 NA19030.hp1 NA19043.hp2	a0003 a0006 a0007 a0003 a0006 a0007	a0003c0004 a0006c0018 a0007c0008 a0003c0004 a0006c0018 a0007c0008	a0003c0004t0004 a0006c0018t0001 a0007c0008t0008 a0003c0004t0004 a0006c0018t0001 a0007c0008t0008	a0003c0004t0004g0098 a0006c0018t0001g0099 a0007c0008t0008g0042 others(2): Show a0003c0004t0004g0098 a0006c0018t0001g0099 a0007c0008t0008g0042 a0007c0008t0008g0096 a0007c0008t0008g0097	6	440	0.0136	-23	c.-4+ others(38): Show c.-4+3031_-4+3053delTGGGGGTGGTGGGCTGAACTGGG	CPN2	ENSG00000178772.7	transcript	ENST00000323830.4	protein_coding	1/1			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131547455	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	94	0.0106	-23	c.130 others(42): Show c.1302+2469_1302+2491delTTTTTTTTTTTTTTTTTTTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	14/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131958970	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 homoSapiens_chm13v2.hp1 HG01081.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0050 a0001c0001t0001g0051	2	94	0.0213	-23	c.-1- others(40): Show c.-1-53549_-1-53527delAAAAAAAAAAAAAAAAAAAAAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131979779	GTTTTATA others(16): Show GTTTTATAGGTCCTGTGTGATTTA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG01071.hp2 others(12): Show HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG02735.hp1 HG02735.hp2 NA18939.hp2 NA18946.hp1 NA18946.hp2 NA18962.hp1 NA18966.hp1 NA18971.hp1 NA18982.hp1 NA18982.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0002t0001 a0001c0002t0009 a0001c0003t0001	a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0042 others(12): Show a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0059 a0001c0001t0003g0034 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0005g0073 a0001c0001t0007g0002 a0001c0001t0009g0067 a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0009g0068 a0001c0003t0001g0033	15	94	0.1596	-23	c.-2+ others(40): Show c.-2+54765_-2+54787delTAAATCACACAGGACCTATAAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE8_chr12_38647203_38910591	38660026	ATGGCCAT others(16): Show ATGGCCATACTGCCCAAGGCAATT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0300 a0001c0001t0013g0300	1	342	0.0029	-23	c.150 others(42): Show c.1507-5979_1507-5957delAATTGCCTTGGGCAGTATGGCCA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	19/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38862282	TATTTCTC others(16): Show TATTTCTCTTATATAATCCTGAAG	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp2 HG01071.hp1 others(33): Show HG00733.hp2 HG00735.hp2 HG01071.hp1 HG01074.hp1 HG01256.hp2 HG01258.hp1 HG01884.hp1 HG01943.hp2 HG02004.hp1 HG02015.hp2 HG02056.hp2 HG02148.hp1 HG02155.hp1 HG02293.hp2 HG02630.hp2 HG02896.hp2 HG02897.hp1 HG03453.hp1 HG03492.hp2 HG04204.hp1 NA18612.hp1 NA18950.hp1 NA18954.hp2 NA18960.hp1 NA18970.hp2 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA18995.hp1 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19030.hp2 NA19077.hp2 NA20129.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 a0001c0001t0001 a0001c0001t0003 a0001c0001t0021	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 others(33): Show a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0230 a0001c0001t0003g0136 a0001c0001t0021g0022	36	342	0.1053	-23	c.186 others(42): Show c.186+10699_186+10721delCTTCAGGATTATATAAGAGAAAT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	3/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38902370	AAGAAAGA others(16): Show AAGAAAGAAAGAAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02818.hp1 HG01167.hp1 HG01169.hp1 HG02818.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0002c0005t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0002c0005t0001g0023	3	342	0.0088	-23	c.98+ others(38): Show c.98+3044_98+3066delCTTTCTTTCTTTTCTTTCTTTCT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar

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