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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CPXM2_chr10_123740639_123896807	123881232	T T	TCTTCCCT others(11): Show TCTTCCCTTCCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0113 a0001c0004t0001g0113	1	288	0.0035	18	c.305 others(33): Show c.305-924_305-923insGAAGGAAGGGAAGGGAAG		CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	1/13						chr10	TogoVar
CPZ_chr4_8587765_8624752	8622800	G G	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 NA18953.hp1 NA19088.hp1 HG02572.hp2 NA18953.hp1 NA19088.hp1	a0002 a0005 a0002 a0005	a0002c0014 a0005c0005 a0002c0014 a0005c0005	a0002c0014t0002 a0005c0005t0002 a0002c0014t0002 a0005c0005t0002	a0002c0014t0002g0022 a0005c0005t0002g0060 a0002c0014t0002g0022 a0005c0005t0002g0060	3	442	0.0068	18	c.31 others(29): Show c.3183_*3184insAAAAAAAAAAAAAAAAAA		CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding					3049		chr4	TogoVar
CP_chr3_149167497_149226829	149175664	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01346.hp1 others(11): Show HG01070.hp2 HG01071.hp2 HG01346.hp1 HG01891.hp1 HG02055.hp2 HG02451.hp2 HG02486.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG03098.hp1 HG03490.hp1 HG03540.hp1 NA20129.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0019 a0006c0008 a0001c0001 a0001c0019 a0006c0008	a0001c0001t0002 a0001c0001t0006 a0001c0019t0002 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0019t0002 a0006c0008t0006	a0001c0001t0002g0001 a0001c0001t0002g0250 a0001c0001t0002g0251 others(8): Show a0001c0001t0002g0001 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0342 a0001c0001t0006g0267 a0001c0019t0002g0183 a0006c0008t0006g0220	14	376	0.0372	18	c.318 others(35): Show c.3181+568_3181+585dupACACACACACACACACAC		CP	ENSG00000047457.14	transcript	ENST00000264613.11	protein_coding	18/18						chr3	TogoVar
CR1L_chr1_207640133_207728703	207643910	G G	GTATATAT others(11): Show GTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0023 a0023	a0023c0033 a0023c0033	a0023c0033t0001 a0023c0033t0001	a0023c0033t0001g0269 a0023c0033t0001g0269	1	346	0.0029	18	c.-13 others(29): Show c.-1324_-1323insTATATATATATATATATA		CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding					1222		chr1	TogoVar
CR1L_chr1_207640133_207728703	207682996	C C	CTTTCTTT others(11): Show CTTTCTTTCTTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG03225.hp1 others(1): Show HG01256.hp2 HG01258.hp1 HG03225.hp1 NA18998.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0274 a0004c0004t0001g0320 a0004c0004t0001g0321 others(1): Show a0004c0004t0001g0274 a0004c0004t0001g0320 a0004c0004t0001g0321 a0004c0004t0001g0325	4	346	0.0116	18	c.378 others(33): Show c.378-865_378-864insTTCTTTTTTTCTTTCTTT		CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1L_chr1_207640133_207728703	207707785	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00673.hp2 HG03516.hp1 others(4): Show HG00099.hp1 HG00673.hp2 HG03516.hp1 NA18962.hp2 NA18964.hp2 NA18968.hp2 NA19077.hp2	a0002 a0004 a0005 others(1): Show a0002 a0004 a0005 a0018	a0002c0002 a0004c0004 a0005c0005 others(1): Show a0002c0002 a0004c0004 a0005c0005 a0018c0021	a0002c0002t0001 a0004c0004t0001 a0005c0005t0001 others(1): Show a0002c0002t0001 a0004c0004t0001 a0005c0005t0001 a0018c0021t0001	a0002c0002t0001g0065 a0002c0002t0001g0081 a0004c0004t0001g0287 others(4): Show a0002c0002t0001g0065 a0002c0002t0001g0081 a0004c0004t0001g0287 a0004c0004t0001g0289 a0004c0004t0001g0290 a0005c0005t0001g0031 a0018c0021t0001g0266	7	346	0.0202	18	c.132 others(35): Show c.1329-375_1329-358dupCACACACACACACACACA		CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207515144	T T	TACGTATA others(11): Show TACGTATATATACGTGTAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp2 HG00597.hp1 others(82): Show HG00140.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00738.hp2 HG00741.hp1 HG01081.hp1 HG01109.hp2 HG01257.hp1 HG01346.hp1 HG01496.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02083.hp2 HG02129.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02965.hp1 HG03017.hp1 HG03139.hp2 HG03195.hp2 HG03490.hp1 HG03492.hp2 HG03579.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp2 NA18522.hp1 NA18612.hp1 NA18939.hp1 NA18941.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18953.hp2 NA18959.hp2 NA18961.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18980.hp1 NA18989.hp2 NA18990.hp2 NA18993.hp2 NA19000.hp1 NA19007.hp1 NA19043.hp2 NA19058.hp1 NA19060.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19076.hp2 NA19079.hp1 NA19082.hp1 NA19085.hp1 NA19240.hp1 NA20129.hp2	a0001 a0020 a0022 others(8): Show a0001 a0020 a0022 a0023 a0024 a0033 a0037 a0038 a0039 a0041 a0042	a0001c0001 a0001c0021 a0001c0051 others(11): Show a0001c0001 a0001c0021 a0001c0051 a0020c0030 a0022c0029 a0023c0062 a0023c0063 a0024c0028 a0033c0067 a0037c0066 a0038c0065 a0039c0064 a0041c0061 a0042c0060	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0021t0002 a0001c0051t0002 a0020c0030t0003 a0022c0029t0004 a0022c0029t0007 a0023c0062t0002 a0023c0063t0003 a0024c0028t0004 a0033c0067t0007 a0037c0066t0011 a0038c0065t0002 a0039c0064t0003 a0041c0061t0004 a0042c0060t0004	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 others(82): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0146 a0001c0001t0001g0246 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0312 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0336 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0069 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0162 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0187 a0001c0001t0002g0192 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0278 a0001c0001t0002g0286 a0001c0001t0002g0301 a0001c0001t0002g0307 a0001c0001t0002g0315 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0337 a0001c0001t0003g0276 a0001c0001t0003g0288 a0001c0001t0003g0302 a0001c0001t0004g0031 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0285 a0001c0001t0007g0134 a0001c0001t0007g0139 a0001c0001t0008g0104 a0001c0001t0008g0176 a0001c0001t0008g0227 a0001c0001t0010g0339 a0001c0001t0010g0340 a0001c0001t0015g0249 a0001c0021t0002g0062 a0001c0021t0002g0063 a0001c0021t0002g0064 a0001c0051t0002g0254 a0020c0030t0003g0244 a0020c0030t0003g0287 a0022c0029t0004g0224 a0022c0029t0007g0130 a0023c0062t0002g0351 a0023c0063t0003g0355 a0024c0028t0004g0347 a0024c0028t0004g0348 a0033c0067t0007g0241 a0037c0066t0011g0144 a0038c0065t0002g0231 a0039c0064t0003g0247 a0041c0061t0004g0237 a0042c0060t0004g0182	85	360	0.2361	18	c.487 others(35): Show c.487+3502_487+3503insGTGTACACGTATATATAC		CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	4/46					INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617483	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03139.hp1 HG03453.hp1 HG02809.hp1 HG03139.hp1 HG03453.hp1	a0011 a0026 a0011 a0026	a0011c0010 a0026c0027 a0011c0010 a0026c0027	a0011c0010t0002 a0026c0027t0002 a0011c0010t0002 a0026c0027t0002	a0011c0010t0002g0135 a0011c0010t0002g0136 a0026c0027t0002g0027 a0011c0010t0002g0135 a0011c0010t0002g0136 a0026c0027t0002g0027	3	360	0.0083	18	c.689 others(35): Show c.6890-580_6890-563dupATATATATATATATATAT		CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46					INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617507	A A	ATATATAT others(11): Show ATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0001 a0008c0017t0001	a0008c0017t0001g0043 a0008c0017t0001g0043	1	360	0.0028	18	c.689 others(35): Show c.6890-563_6890-562insATATATATATATGTGTGT		CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46					INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617507	A A	ATATATAT others(11): Show ATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0293 a0005c0005t0001g0293	1	360	0.0028	18	c.689 others(35): Show c.6890-563_6890-562insATATATATATGTGTGTGT		CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46					INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207643910	G G	GTATATAT others(11): Show GTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0015 a0015	a0015c0057 a0015c0057	a0015c0057t0002 a0015c0057t0002	a0015c0057t0002g0034 a0015c0057t0002g0034	1	360	0.0028	18	c.45 others(29): Show c.4501_*4502insTATATATATATATATATA		CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding					2146		chr1	TogoVar
CR2_chr1_207449328_207494892	207458059	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18966.hp1 NA19055.hp1 NA18949.hp2 NA18966.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073	3	378	0.0079	18	c.58+ others(33): Show c.58+3606_58+3623dupACACACACACACACACAC		CR2	ENSG00000117322.19	transcript	ENST00000367057.8	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
CR2_chr1_207449328_207494892	207486230	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA19009.hp2 NA18990.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0107 a0001c0001t0001g0083 a0001c0001t0001g0107	2	378	0.0053	18	c.18 others(33): Show c.18+667_*18+684dupAAAAAAAAAAAAAAAAAA		CR2	ENSG00000117322.19	transcript	ENST00000367057.8	protein_coding	19/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
CRACDL_chr2_98788846_98941225	98795040	A A	AATATATA others(11): Show AATATATAAAAATTTATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01106.hp2 HG02280.hp2 others(2): Show HG00733.hp2 HG01106.hp2 HG02280.hp2 HG03017.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0086 a0001c0001t0001g0143 a0001c0001t0001g0164 others(2): Show a0001c0001t0001g0086 a0001c0001t0001g0143 a0001c0001t0001g0164 a0001c0001t0001g0173 a0001c0012t0001g0202	5	316	0.0158	18	c.275 others(35): Show c.2750-370_2750-369insATATAAATTTTTATATAT		CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding	9/9						chr2	TogoVar
CRACDL_chr2_98788846_98941225	98891376	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA19043.hp1 HG00639.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0182 a0001c0001t0001g0074 a0001c0001t0001g0182	2	316	0.0063	18	c.-11 others(37): Show c.-11+44544_-11+44561dupTTTTTTTTTTTTTTTTTT		CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding	1/9						chr2	TogoVar
CRACD_chr4_56044098_56335609	56070847	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02523.hp2 HG02622.hp2 others(5): Show HG02015.hp1 HG02523.hp2 HG02622.hp2 HG03139.hp2 HG03579.hp1 HG03710.hp1 HG03831.hp2 NA19030.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0008 a0012	a0001c0001 a0002c0003 a0004c0004 others(3): Show a0001c0001 a0002c0003 a0004c0004 a0005c0005 a0008c0010 a0012c0020	a0001c0001t0003 a0002c0003t0001 a0004c0004t0004 others(3): Show a0001c0001t0003 a0002c0003t0001 a0004c0004t0004 a0005c0005t0006 a0008c0010t0008 a0012c0020t0002	a0001c0001t0003g0022 a0002c0003t0001g0043 a0002c0003t0001g0063 others(5): Show a0001c0001t0003g0022 a0002c0003t0001g0043 a0002c0003t0001g0063 a0004c0004t0004g0191 a0005c0005t0006g0080 a0008c0010t0008g0226 a0012c0020t0002g0034 a0012c0020t0002g0096	8	250	0.0320	18	c.-33 others(39): Show c.-336+21574_-336+21591dupGTGTGTGTGTGTGTGTGT		CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACD_chr4_56044098_56335609	56188711	C C	CACACACA others(11): Show CACACACACAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01167.hp2 NA18522.hp1 HG01167.hp2 NA18522.hp1	a0003 a0005 a0003 a0005	a0003c0002 a0005c0005 a0003c0002 a0005c0005	a0003c0002t0002 a0005c0005t0006 a0003c0002t0002 a0005c0005t0006	a0003c0002t0002g0137 a0005c0005t0006g0001 a0003c0002t0002g0137 a0005c0005t0006g0001	2	250	0.0080	18	c.-18 others(37): Show c.-189+9282_-189+9283insCACACACAGAGAGAGAGA		CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACD_chr4_56044098_56335609	56207745	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0201 a0004c0004t0004g0201	1	250	0.0040	18	c.-18 others(39): Show c.-189+28332_-189+28349dupATATATATATATATATAT		CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACD_chr4_56044098_56335609	56314410	C C	CGGAGCGG others(11): Show CGGAGCGGAGGGAGCGGAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00323.hp1 HG00609.hp2 HG00738.hp1 others(60): Show HG00323.hp1 HG00609.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp2 HG01993.hp1 HG02055.hp1 HG02056.hp1 HG02083.hp2 HG02145.hp1 HG02148.hp1 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02886.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03942.hp1 HG04115.hp2 NA18522.hp1 NA18522.hp2 NA18986.hp1 NA19030.hp2 NA19043.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0003 a0005 a0011 others(2): Show a0003 a0005 a0011 a0012 a0031	a0003c0002 a0003c0007 a0005c0005 others(4): Show a0003c0002 a0003c0007 a0005c0005 a0005c0026 a0011c0011 a0012c0020 a0031c0021	a0003c0002t0002 a0003c0002t0031 a0003c0002t0035 others(12): Show a0003c0002t0002 a0003c0002t0031 a0003c0002t0035 a0003c0007t0001 a0003c0007t0002 a0003c0007t0005 a0003c0007t0011 a0005c0005t0006 a0005c0005t0007 a0005c0005t0019 a0005c0005t0022 a0005c0026t0013 a0011c0011t0009 a0012c0020t0002 a0031c0021t0002	a0003c0002t0002g0005 a0003c0002t0002g0008 a0003c0002t0002g0010 others(60): Show a0003c0002t0002g0005 a0003c0002t0002g0008 a0003c0002t0002g0010 a0003c0002t0002g0047 a0003c0002t0002g0049 a0003c0002t0002g0053 a0003c0002t0002g0067 a0003c0002t0002g0070 a0003c0002t0002g0078 a0003c0002t0002g0079 a0003c0002t0002g0081 a0003c0002t0002g0088 a0003c0002t0002g0093 a0003c0002t0002g0101 a0003c0002t0002g0103 a0003c0002t0002g0106 a0003c0002t0002g0111 a0003c0002t0002g0118 a0003c0002t0002g0119 a0003c0002t0002g0125 a0003c0002t0002g0129 a0003c0002t0002g0131 a0003c0002t0002g0132 a0003c0002t0002g0137 a0003c0002t0002g0139 a0003c0002t0002g0146 a0003c0002t0002g0156 a0003c0002t0002g0158 a0003c0002t0002g0164 a0003c0002t0002g0179 a0003c0002t0002g0181 a0003c0002t0002g0184 a0003c0002t0002g0207 a0003c0002t0002g0209 a0003c0002t0002g0212 a0003c0002t0002g0224 a0003c0002t0002g0230 a0003c0002t0002g0233 a0003c0002t0002g0246 a0003c0002t0002g0250 a0003c0002t0031g0069 a0003c0002t0035g0091 a0003c0007t0001g0026 a0003c0007t0001g0242 a0003c0007t0002g0168 a0003c0007t0005g0035 a0003c0007t0011g0050 a0005c0005t0006g0001 a0005c0005t0006g0080 a0005c0005t0006g0145 a0005c0005t0007g0024 a0005c0005t0007g0030 a0005c0005t0007g0044 a0005c0005t0007g0055 a0005c0005t0019g0017 a0005c0005t0022g0059 a0005c0026t0013g0095 a0011c0011t0009g0004 a0011c0011t0009g0025 a0011c0011t0009g0052 a0012c0020t0002g0034 a0012c0020t0002g0096 a0031c0021t0002g0238	63	250	0.2520	18	c.923 others(25): Show c.923_924insGAGGGAGCGGAGGGAGCG	p.Arg others(31): Show p.Arg308_Glu309insArgGluArgArgGluArg	CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	8/11	1461/7044	924/3702	308/1233		INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACR2A_chr12_3610328_3758109	3621648	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01081.hp2 HG01167.hp2 others(9): Show HG00597.hp1 HG01081.hp2 HG01167.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02647.hp1 HG02717.hp1 HG02735.hp2 HG03130.hp1 HG03209.hp1 NA20805.hp2	a0001 a0003 a0007 others(2): Show a0001 a0003 a0007 a0020 a0028	a0001c0001 a0003c0003 a0007c0008 others(2): Show a0001c0001 a0003c0003 a0007c0008 a0020c0031 a0028c0025	a0001c0001t0001 a0003c0003t0001 a0007c0008t0001 others(2): Show a0001c0001t0001 a0003c0003t0001 a0007c0008t0001 a0020c0031t0002 a0028c0025t0001	a0001c0001t0001g0110 a0001c0001t0001g0162 a0001c0001t0001g0169 others(9): Show a0001c0001t0001g0110 a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0001g0178 a0001c0001t0001g0246 a0001c0001t0001g0269 a0001c0001t0001g0306 a0003c0003t0001g0129 a0003c0003t0001g0285 a0007c0008t0001g0291 a0020c0031t0002g0111 a0028c0025t0001g0114	12	320	0.0375	18	c.193 others(37): Show c.1933-2294_1933-2277dupTTTTTTTTTTTTTTTTTT		CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	17/19						chr12	TogoVar
CRACR2A_chr12_3610328_3758109	3621652	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	320	0.0031	18	c.193 others(37): Show c.1933-2281_1933-2280insGTTTTTTTTTTTTTTTTT		CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	17/19						chr12	TogoVar
CRACR2A_chr12_3610328_3758109	3639457	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp1 HG00673.hp2 others(72): Show HG00438.hp2 HG00639.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01243.hp2 HG01261.hp2 HG01361.hp2 HG02015.hp1 HG02015.hp2 HG02071.hp2 HG02080.hp1 HG02109.hp2 HG02132.hp1 HG02257.hp2 HG02572.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03471.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18612.hp2 NA18942.hp2 NA18946.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18956.hp2 NA18962.hp2 NA18964.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp2 NA18983.hp2 NA18990.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19012.hp2 NA19030.hp2 NA19054.hp2 NA19057.hp1 NA19065.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19084.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0027	a0001c0001 a0002c0002 a0003c0003 others(8): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0006c0006 a0007c0008 a0009c0012 a0010c0011 a0011c0010 a0027c0019	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(12): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0005c0005t0001 a0006c0006t0001 a0007c0008t0001 a0007c0008t0003 a0009c0012t0001 a0010c0011t0001 a0010c0011t0002 a0011c0010t0001 a0011c0010t0003 a0027c0019t0001	a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0036 others(72): Show a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0072 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0213 a0001c0001t0001g0222 a0001c0001t0001g0241 a0001c0001t0001g0257 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0284 a0001c0001t0003g0003 a0001c0001t0003g0008 a0001c0001t0003g0010 a0001c0001t0003g0015 a0001c0001t0003g0019 a0001c0001t0003g0022 a0002c0002t0001g0280 a0003c0003t0001g0031 a0003c0003t0001g0061 a0004c0004t0001g0197 a0004c0004t0001g0287 a0005c0005t0001g0148 a0005c0005t0001g0149 a0005c0005t0001g0231 a0005c0005t0001g0232 a0005c0005t0001g0235 a0006c0006t0001g0037 a0006c0006t0001g0055 a0006c0006t0001g0062 a0007c0008t0001g0084 a0007c0008t0001g0311 a0007c0008t0003g0026 a0009c0012t0001g0146 a0010c0011t0001g0098 a0010c0011t0002g0106 a0010c0011t0002g0108 a0011c0010t0001g0082 a0011c0010t0003g0017 a0027c0019t0001g0314	75	320	0.2344	18	c.127 others(37): Show c.1272-1021_1272-1004dupGTGTGTGTGTGTGTGTGT		CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	13/19						chr12	TogoVar
CRACR2A_chr12_3610328_3758109	3666330	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02647.hp2 HG02723.hp1 others(3): Show HG02280.hp1 HG02647.hp2 HG02723.hp1 HG03041.hp1 HG03195.hp1 HG03471.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0004c0004 a0008c0007 a0001c0001 a0004c0004 a0008c0007	a0001c0001t0002 a0004c0004t0001 a0004c0004t0002 others(1): Show a0001c0001t0002 a0004c0004t0001 a0004c0004t0002 a0008c0007t0001	a0001c0001t0002g0274 a0001c0001t0002g0276 a0004c0004t0001g0210 others(3): Show a0001c0001t0002g0274 a0001c0001t0002g0276 a0004c0004t0001g0210 a0004c0004t0002g0315 a0008c0007t0001g0050 a0008c0007t0001g0300	6	320	0.0188	18	c.672 others(35): Show c.672-6694_672-6677dupACACACACACACACACAC		CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	7/19						chr12	TogoVar
CRACR2B_chr11_822919_836986	833070	G G	GGCGAGGG others(11): Show GGCGAGGGAGGCGAGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0001 a0003c0003t0004g0001	1	448	0.0022	18	c.13 others(29): Show c.1361_*1362insGCGAGGGAGGCGAGGGGC		CRACR2B	ENSG00000177685.17	transcript	ENST00000525077.2	protein_coding					1085		chr11	TogoVar
CRACR2B_chr11_822919_836986	833070	G G	GGCGAGGG others(11): Show GGCGAGGGGGGCGAGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00673.hp1 HG00673.hp2 others(52): Show HG00558.hp1 HG00673.hp1 HG00673.hp2 HG01070.hp2 HG01071.hp2 HG01255.hp1 HG01261.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02155.hp1 HG02257.hp2 HG02559.hp2 HG02622.hp1 HG02717.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03540.hp2 HG04204.hp2 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA18970.hp2 NA18973.hp1 NA18975.hp1 NA18980.hp1 NA18981.hp2 NA18990.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19054.hp1 NA19063.hp2 NA19064.hp2 NA19077.hp2 NA19081.hp1 NA19091.hp1 NA19240.hp1 NA20805.hp1	a0001 a0003 a0011 others(1): Show a0001 a0003 a0011 a0012	a0001c0001 a0003c0003 a0011c0012 others(1): Show a0001c0001 a0003c0003 a0011c0012 a0012c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0003c0003t0001 a0003c0003t0003 a0003c0003t0004 a0011c0012t0004 a0012c0011t0023	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0002g0001 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0002g0001 a0001c0001t0003g0001 a0001c0001t0003g0007 a0001c0001t0003g0015 a0001c0001t0004g0001 a0001c0001t0007g0001 a0001c0001t0007g0007 a0001c0001t0012g0001 a0001c0001t0013g0001 a0001c0001t0018g0001 a0003c0003t0001g0003 a0003c0003t0003g0001 a0003c0003t0004g0001 a0011c0012t0004g0001 a0012c0011t0023g0012	55	448	0.1228	18	c.13 others(29): Show c.1361_*1362insGCGAGGGGGGCGAGGGGC		CRACR2B	ENSG00000177685.17	transcript	ENST00000525077.2	protein_coding					1085		chr11	TogoVar
CRACR2B_chr11_822919_836986	833195	G G	GCCCAGCT others(11): Show GCCCAGCTCCCTCGCCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0002 a0002c0002t0006g0002	1	448	0.0022	18	c.14 others(29): Show c.1486_*1487insCCCAGCTCCCTCGCCTGC		CRACR2B	ENSG00000177685.17	transcript	ENST00000525077.2	protein_coding					1210		chr11	TogoVar
CRADD_chr12_93672375_93855756	93701295	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	248	0.0040	18	c.298 others(37): Show c.298+22243_298+22260dupCACACACACACACACACA		CRADD	ENSG00000169372.13	transcript	ENST00000332896.8	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr12	TogoVar
CRADD_chr12_93672375_93855756	93790912	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02965.hp2 HG03041.hp1 others(5): Show HG02922.hp1 HG02965.hp2 HG03041.hp1 HG03139.hp1 HG04115.hp2 HG04228.hp1 NA18906.hp2 NA19007.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0071 a0001c0001t0001g0124 a0001c0001t0001g0170 others(5): Show a0001c0001t0001g0071 a0001c0001t0001g0124 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0002t0001g0077 a0001c0002t0001g0217 a0001c0002t0001g0234 a0002c0003t0001g0125	8	248	0.0323	18	c.299 others(37): Show c.299-59047_299-59030dupACACACACACACACACAC		CRADD	ENSG00000169372.13	transcript	ENST00000332896.8	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr12	TogoVar
CRAMP1_chr16_1607360_1682908	1614311	C C	CCCGGGGC others(11): Show CCCGGGGCCGGGGCCGGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG01192.hp1 others(13): Show HG00099.hp1 HG00438.hp1 HG01192.hp1 HG02683.hp2 HG02970.hp1 HG03540.hp2 HG03579.hp1 HG03927.hp2 HG04204.hp1 NA18941.hp2 NA18948.hp1 NA18968.hp2 NA19007.hp1 NA19057.hp1 NA19065.hp2 NA20129.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0011 a0001c0014 others(1): Show a0001c0001 a0001c0011 a0001c0014 a0007c0017	a0001c0001t0003 a0001c0001t0008 a0001c0011t0003 others(2): Show a0001c0001t0003 a0001c0001t0008 a0001c0011t0003 a0001c0014t0003 a0007c0017t0031	a0001c0001t0003g0001 a0001c0001t0003g0006 a0001c0001t0003g0040 others(9): Show a0001c0001t0003g0001 a0001c0001t0003g0006 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0008g0088 a0001c0001t0008g0089 a0001c0011t0003g0043 a0001c0014t0003g0001 a0007c0017t0031g0090	16	332	0.0482	18	c.-1- others(31): Show c.-1-316_-1-299dupGCCGGGGCCGGGGCCGGG		CRAMP1	ENSG00000007545.16	transcript	ENST00000397412.8	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CRB1_chr1_197263252_197483455	197319259	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02809.hp1 HG02895.hp1 others(2): Show HG01884.hp2 HG02809.hp1 HG02895.hp1 HG02976.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0057 a0001c0001t0001g0067 a0001c0001t0001g0134 others(2): Show a0001c0001t0001g0057 a0001c0001t0001g0067 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0002t0001g0138	5	186	0.0269	18	c.71- others(33): Show c.71-9161_71-9144dupAAAAAAAAAAAAAAAAAA		CRB1	ENSG00000134376.17	transcript	ENST00000367400.8	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
CRB1_chr1_197263252_197483455	197405045	G G	GCCCTCTC others(11): Show GCCCTCTCCCTCTCCCTCT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18945.hp2 NA18972.hp1 NA18612.hp2 NA18945.hp2 NA18972.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0130 a0002c0003t0001g0131 a0002c0003t0001g0132 a0002c0003t0001g0130 a0002c0003t0001g0131 a0002c0003t0001g0132	3	186	0.0161	18	c.117 others(39): Show c.1172-15939_1172-15922dupTCTCCCTCTCCCTCTCCC		CRB1	ENSG00000134376.17	transcript	ENST00000367400.8	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
CRB2_chr9_123351197_123383753	123359430	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0111 a0001c0005t0001g0111	1	432	0.0023	18	c.94+ others(33): Show c.94+3081_94+3082insTTTTTTTTTTTTTTTTTT		CRB2	ENSG00000148204.12	transcript	ENST00000373631.8	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr9	TogoVar
CRB2_chr9_123351197_123383753	123363955	T T	TGAGTCTG others(11): Show TGAGTCTGCAGTGTAGATG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0120 a0005c0008t0001g0120	1	432	0.0023	18	c.418 others(33): Show c.418+768_418+785dupGAGTCTGCAGTGTAGATG		CRB2	ENSG00000148204.12	transcript	ENST00000373631.8	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr9	TogoVar
CRB2_chr9_123351197_123383753	123378798	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0208 a0001c0002t0001g0208	1	432	0.0023	18	c.17 others(29): Show c.1736_*1737insTTTTTTTTTTTTTTTTTT		CRB2	ENSG00000148204.12	transcript	ENST00000373631.8	protein_coding					46		chr9	TogoVar
CRCT1_chr1_152509482_152521008	152515514	G G	GGGGCTGC others(11): Show GGGGCTGCTGCGGCGACTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02015.hp2 HG02015.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0002 a0004c0010t0002	a0004c0010t0002g0001 a0004c0010t0002g0001	1	432	0.0023	18	c.132 others(25): Show c.132_149dupGGGCTGCTGCGGCGACTC	p.Ser others(29): Show p.Ser50_Gly51insGlyCysCysGlyAspSer	CRCT1	ENSG00000169509.6	transcript	ENST00000368790.4	protein_coding	2/2	243/718	150/300	50/99		INFO_REALIGN_3_PRIME	chr1	TogoVar
CRCT1_chr1_152509482_152521008	152515515	G G	GGGCTGCT others(11): Show GGGCTGCTGCGGCGACTCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00558.hp1 HG00673.hp2 HG02027.hp2 others(7): Show HG00558.hp1 HG00673.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02129.hp1 HG02257.hp2 HG02723.hp1 HG02897.hp1 HG03139.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0004 a0004c0006t0006 a0004c0006t0004 a0004c0006t0006	a0004c0006t0004g0006 a0004c0006t0006g0008 a0004c0006t0004g0006 a0004c0006t0006g0008	10	432	0.0232	18	c.145 others(25): Show c.145_162dupGACTCAGGCTGCTGCGGC	p.Asp others(11): Show p.Asp49_Gly54dup	CRCT1	ENSG00000169509.6	transcript	ENST00000368790.4	protein_coding	2/2	256/718	163/300	55/99		INFO_REALIGN_3_PRIME	chr1	TogoVar
CREB3L1_chr11_46272662_46326409	46305690	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTATATATG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03486.hp2 HG02965.hp2 HG03486.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0017 a0001c0006t0003 a0001c0006t0017	a0001c0006t0003g0059 a0001c0006t0017g0058 a0001c0006t0003g0059 a0001c0006t0017g0058	2	304	0.0066	18	c.332 others(35): Show c.332-2115_332-2114insATATATGTGTGTGTGTGT		CREB3L1	ENSG00000157613.11	transcript	ENST00000621158.5	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
CREB3L2_chr7_137869979_138007086	137969761	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp2 HG02572.hp2 others(9): Show HG01884.hp2 HG02451.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02896.hp2 HG02897.hp1 HG03130.hp2 HG03540.hp1 NA18906.hp2 NA19030.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 others(6): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0020 a0001c0001t0024 a0001c0001t0064 a0001c0004t0067 a0002c0002t0015	a0001c0001t0007g0029 a0001c0001t0007g0218 a0001c0001t0007g0221 others(9): Show a0001c0001t0007g0029 a0001c0001t0007g0218 a0001c0001t0007g0221 a0001c0001t0008g0010 a0001c0001t0012g0119 a0001c0001t0013g0268 a0001c0001t0020g0277 a0001c0001t0024g0217 a0001c0001t0024g0220 a0001c0001t0064g0247 a0001c0004t0067g0286 a0002c0002t0015g0193	12	288	0.0417	18	c.102 others(37): Show c.102+31825_102+31842dupGTGTGTGTGTGTGTGTGT		CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11						chr7	TogoVar
CREB5_chr7_28407518_28830894	28486670	T T	TTAAATAT others(11): Show TTAAATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	198	0.0051	18	c.4-1 others(31): Show c.4-1503_4-1502insAATATATATATATATATA		CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28486670	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0080 a0001c0001t0025g0080	1	198	0.0051	18	c.4-1 others(31): Show c.4-1499_4-1482dupATATATATATATATATAT		CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28555109	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02004.hp1 HG02559.hp2 others(5): Show HG01891.hp1 HG02004.hp1 HG02559.hp2 HG02630.hp1 HG02897.hp2 HG03453.hp1 HG03579.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0018 others(3): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0018 a0001c0001t0024 a0001c0001t0028 a0001c0001t0039	a0001c0001t0002g0023 a0001c0001t0006g0035 a0001c0001t0006g0036 others(5): Show a0001c0001t0002g0023 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0006g0096 a0001c0001t0018g0184 a0001c0001t0024g0132 a0001c0001t0028g0037 a0001c0001t0039g0123	8	198	0.0404	18	c.292 others(37): Show c.292-15239_292-15238insGTGTGTGTGTGTGTGTGT		CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28560879	C C	CGTGCGTG others(11): Show CGTGCGTGCGCGTGCGTGT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03195.hp2 HG02630.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0165 a0001c0001t0010g0171 a0001c0001t0002g0165 a0001c0001t0010g0171	2	198	0.0101	18	c.292 others(35): Show c.292-9477_292-9476insCGTGCGTGTGTGCGTGCG		CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28638264	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0198 a0001c0001t0003g0198	1	198	0.0051	18	c.464 others(37): Show c.464+67740_464+67757dupACACACACACACACACAC		CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28642987	T T	TACACACA others(11): Show TACACACATACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02897.hp1 HG06807.hp1 HG01884.hp1 HG02897.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0015 a0001c0001t0002 a0001c0001t0011 a0001c0001t0015	a0001c0001t0002g0092 a0001c0001t0011g0003 a0001c0001t0015g0167 a0001c0001t0002g0092 a0001c0001t0011g0003 a0001c0001t0015g0167	3	198	0.0152	18	c.464 others(37): Show c.464+72457_464+72458insTACACACACACACACACA		CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28658953	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	198	0.0051	18	c.465 others(37): Show c.465-59790_465-59773dupATATATATATATATATAT		CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28712524	T T	TTTATTAT others(11): Show TTTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03453.hp1 HG03579.hp1 others(1): Show HG02486.hp2 HG03453.hp1 HG03579.hp1 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0020 a0001c0001t0003 a0001c0001t0006 a0001c0001t0020	a0001c0001t0003g0010 a0001c0001t0006g0035 a0001c0001t0006g0036 others(1): Show a0001c0001t0003g0010 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0020g0169	4	198	0.0202	18	c.465 others(35): Show c.465-6223_465-6206dupATTATTATTATTATTATT		CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28775543	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03139.hp1 HG03139.hp2 HG02698.hp1 HG03139.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0025 a0001c0002t0051 a0001c0001t0005 a0001c0001t0025 a0001c0002t0051	a0001c0001t0005g0163 a0001c0001t0025g0080 a0001c0002t0051g0047 a0001c0001t0005g0163 a0001c0001t0025g0080 a0001c0002t0051g0047	3	198	0.0152	18	c.703 others(37): Show c.703-28651_703-28634dupATATATATATATATATAT		CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28790428	A A	AAGAGAGA others(11): Show AAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0037 a0001c0001t0028g0037	1	198	0.0051	18	c.703 others(37): Show c.703-13755_703-13738dupGAGAGAGAGAGAGAGAGA		CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
CREBBP_chr16_3720054_3885713	3759588	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02622.hp2 HG03098.hp1 others(3): Show HG01243.hp2 HG02622.hp2 HG03098.hp1 HG03130.hp1 HG03516.hp2 NA18967.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0006 a0003c0008 a0001c0001 a0002c0006 a0003c0008	a0001c0001t0004 a0001c0001t0024 a0002c0006t0016 others(1): Show a0001c0001t0004 a0001c0001t0024 a0002c0006t0016 a0003c0008t0007	a0001c0001t0004g0041 a0001c0001t0004g0241 a0001c0001t0024g0269 others(3): Show a0001c0001t0004g0041 a0001c0001t0004g0241 a0001c0001t0024g0269 a0002c0006t0016g0267 a0003c0008t0007g0219 a0003c0008t0007g0220	6	286	0.0210	18	c.325 others(35): Show c.3251-617_3251-616insTTTTTTTTTTTTTTTTTT		CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	16/30						chr16	TogoVar
CREBBP_chr16_3720054_3885713	3768136	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0211 a0001c0005t0010g0211	1	286	0.0035	18	c.306 others(35): Show c.3061-245_3061-228dupAAAAAAAAAAAAAAAAAA		CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	15/30						chr16	TogoVar

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