Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

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No_samplehapid

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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
COP1_chr1_175939831_176212286	175955766	C C	CCACACAC others(23): Show CCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	300	0.0033	30	c.213 others(49): Show c.2134-8557_2134-8528dupTGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176028696	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0283 a0001c0001t0003g0283	1	300	0.0033	30	c.161 others(49): Show c.1613-1038_1613-1009dupATATATATATATATATATATATATAT ATAT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	14/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176209307	C C	CCCCCCAC others(23): Show CCCCCCACCCCCTTTTGTTTAAGAGATGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG02735.hp1 HG02895.hp1 others(5): Show HG00099.hp1 HG02735.hp1 HG02895.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 NA18954.hp2 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0002t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0002	a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0272 others(5): Show a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0005g0275 a0001c0001t0005g0276 a0001c0002t0002g0028	8	300	0.0267	30	c.-23 others(41): Show c.-2330_-2329insCCCCATCTCTTAAACAAAAGGGGGTGGGGG	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding		2022		chr1	TogoVar
COPG2_chr7_130501238_130673748	130513341	A A	ATATATAT others(23): Show ATATATATATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	326	0.0031	30	c.215 others(49): Show c.2150-4683_2150-4682insCACACACATATATATATATATATATA TATA	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	20/23			chr7	TogoVar
COPZ2_chr17_48021167_48042797	48026119	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA20300.hp2 NA18522.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0101 a0002c0002t0002g0012 a0001c0001t0001g0101 a0002c0002t0002g0012	2	396	0.0051	30	c.30 others(39): Show c.308_*309insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	COPZ2	ENSG00000005243.10	transcript	ENST00000621465.5	protein_coding		47		chr17	TogoVar
COQ10B_chr2_197448552_197480310	197473475	C C	CACGTATA others(23): Show CACGTATATATATGTATATACGTATATATAT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA19086.hp2 NA18985.hp1 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0175 a0001c0002t0002g0195 a0001c0002t0002g0175 a0001c0002t0002g0195	2	390	0.0051	30	c.550 others(45): Show c.550-269_550-240dupGTATATACGTATATATATACGTATATATAT	COQ10B	ENSG00000115520.9	transcript	ENST00000263960.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
COQ5_chr12_120498279_120534158	120499038	G G	GGAACAAG others(23): Show GGAACAAGTGTGAAACACTAGATCGCGTGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0334 a0001c0001t0001g0334	1	388	0.0026	30	c.47 others(41): Show c.4745_*4746insAACACGCGATCTAGTGTTTCACACTTGTTC	COQ5	ENSG00000110871.15	transcript	ENST00000288532.11	protein_coding		4240		chr12	TogoVar
COQ8A_chr1_226935294_226992544	226973984	C C	CTCACCCC others(23): Show CTCACCCCTGCCCTTAAGCACTTTTCACCCA	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	412	0.0024	30	c.656 others(47): Show c.656-3464_656-3435dupTCACCCCTGCCCTTAAGCACTTTTCACC CA	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TATAGAGA others(23): Show TATAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02615.hp2 NA19240.hp1 HG02258.hp1 HG02615.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0006 a0001c0004t0001 a0001c0002t0001 a0001c0002t0006 a0001c0004t0001	a0001c0002t0001g0270 a0001c0002t0006g0294 a0001c0004t0001g0254 a0001c0002t0001g0270 a0001c0002t0006g0294 a0001c0004t0001g0254	3	410	0.0073	30	c.114 others(49): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTCTCTCTCTCT CTAT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TATATAGA others(23): Show TATATAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02622.hp2 HG02976.hp1 others(1): Show HG00735.hp1 HG02622.hp2 HG02976.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0025 a0001c0002 a0001c0004 a0002c0025	a0001c0002t0001 a0001c0004t0001 a0002c0025t0001 a0001c0002t0001 a0001c0004t0001 a0002c0025t0001	a0001c0002t0001g0234 a0001c0004t0001g0251 a0001c0004t0001g0258 others(1): Show a0001c0002t0001g0234 a0001c0004t0001g0251 a0001c0004t0001g0258 a0002c0025t0001g0052	4	410	0.0098	30	c.114 others(49): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTCTCTCTCTCT ATAT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TATATATA others(23): Show TATATATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0247 a0001c0004t0001g0247	1	410	0.0024	30	c.114 others(49): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTCTCTCTCTAT ATAT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697874	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03669.hp2 HG01192.hp2 HG03669.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0266 a0001c0004t0001g0267 a0001c0004t0001g0266 a0001c0004t0001g0267	2	410	0.0049	30	c.114 others(49): Show c.1144-1821_1144-1820insACTCTCTCTCTCTCTCTCTCTCTCTC TCTC	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697875	G G	GAGAGAGA others(23): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0336 a0001c0002t0001g0336	1	410	0.0024	30	c.114 others(49): Show c.1144-1822_1144-1821insGTCTCTCTCTCTCTCTCTCTCTCTCT CTCT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697875	G G	GAGAGAGA others(23): Show GAGAGAGAGAGAGAGAGAGAGGGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0232 a0001c0002t0001g0232	1	410	0.0024	30	c.114 others(49): Show c.1144-1822_1144-1821insGTCTCTCTCCCTCTCTCTCTCTCTCT CTCT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
CORO1C_chr12_108640109_108736518	108695851	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0321 a0001c0001t0021g0321	1	326	0.0031	30	c.195 others(47): Show c.195+5272_195+5273insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CORO1C	ENSG00000110880.11	transcript	ENST00000261401.8	protein_coding	2/10			chr12	TogoVar
CORO2A_chr9_98115975_98197637	98154329	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0110 a0001c0001t0020g0110	1	342	0.0029	30	c.201 others(47): Show c.201+3130_201+3131insTATATATATATATATATATATATATATA CA	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	2/11			chr9	TogoVar
CORO7_chr16_4349542_4421596	4378328	C C	CGGCCACA others(23): Show CGGCCACAGTGGTGGCCAGGCTGGCCAGGCT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02109.hp2 HG01074.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0145 a0001c0002t0001g0148 a0001c0002t0001g0145 a0001c0002t0001g0148	2	297	0.0067	30	c.785 others(47): Show c.785+9628_785+9657dupAGCCTGGCCAGCCTGGCCACCACTGTGG CC	CORO7	ENSG00000262246.6	transcript	ENST00000251166.9	protein_coding	9/27			chr16	TogoVar
COX14_chr12_50107236_50125453	50112907	C C	CGTTATGT others(23): Show CGTTATGTTATGTTATGTTATGTTATGTTAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	418	0.0024	30	c.-9+ others(43): Show c.-9+617_-9+646dupGTTATGTTATGTTATGTTATGTTATGTTAT	COX14	ENSG00000178449.9	transcript	ENST00000550487.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr12	TogoVar
COX6B2_chr19_55344704_55359719	55359429	C C	CGGGATGG others(23): Show CGGGATGGAGCAGGTATGGCTGGGGCCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01891.hp2 HG02572.hp1 others(5): Show HG00738.hp2 HG01891.hp2 HG02572.hp1 HG02886.hp1 HG02896.hp2 HG03540.hp2 NA18522.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0053 a0001c0001t0005g0011 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0053 a0001c0001t0005g0011 a0001c0001t0005g0056	8	390	0.0205	30	c.-48 others(41): Show c.-4828_-4799dupAGAAGGCCCCAGCCATACCTGCTCCATCCC	COX6B2	ENSG00000160471.13	transcript	ENST00000326529.9	protein_coding		4711		chr19	TogoVar
COX7A2L_chr2_42344338_42366217	42364250	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 NA18945.hp1 HG02135.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	2	406	0.0049	30	c.-30 others(41): Show c.-3090_-3089insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	COX7A2L	ENSG00000115944.15	transcript	ENST00000234301.3	protein_coding		3034		chr2	TogoVar
COX7A2_chr6_75232787_75248801	75248081	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	382	0.0026	30	c.-43 others(41): Show c.-4348_-4347insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	COX7A2	ENSG00000112695.13	transcript	ENST00000684430.2	protein_coding		4281		chr6	TogoVar
COX7B2_chr4_46729827_46914245	46754726	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	300	0.0033	30	c.-49 others(49): Show c.-49-19486_-49-19485insTACATATATATATATATATATATATA TATA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
CPA6_chr8_67417038_67751360	67560160	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA20905.hp2 HG02622.hp1 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0032 a0002c0002t0001g0074 a0002c0002t0001g0032 a0002c0002t0001g0074	2	144	0.0139	30	c.193 others(49): Show c.193-42114_193-42113insATATATATATATATATATATATATAT ATAT	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	2/10			chr8	TogoVar
CPAMD8_chr19_16887951_17031810	16926304	C C	CTTTATTT others(23): Show CTTTATTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA19085.hp2 HG01891.hp2 NA19085.hp2	a0050 a0100 a0050 a0100	a0050c0148 a0100c0068 a0050c0148 a0100c0068	a0050c0148t0002 a0100c0068t0002 a0050c0148t0002 a0100c0068t0002	a0050c0148t0002g0235 a0100c0068t0002g0159 a0050c0148t0002g0235 a0100c0068t0002g0159	2	278	0.0072	30	c.337 others(47): Show c.3371-933_3371-932insATAAAATAAAATAAAATAAAATAAAATA AA	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	25/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16967863	T T	TTGTATAT others(23): Show TTGTATATATGTGCATATATACACACACGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(88): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00741.hp1 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01516.hp1 HG01891.hp1 HG01934.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02717.hp1 HG02886.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG04199.hp2 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18943.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18959.hp2 NA18963.hp1 NA18963.hp2 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18985.hp1 NA19000.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19088.hp2 NA20129.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(50): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0011 a0013 a0014 a0015 a0016 a0018 a0019 a0021 a0022 a0023 a0024 a0027 a0029 a0030 a0031 a0034 a0035 a0038 a0042 a0043 a0044 a0048 a0050 a0052 a0055 a0058 a0069 a0077 a0079 a0081 a0087 a0090 a0091 a0093 a0094 a0095 a0096 a0097 a0098 a0104 a0106 a0111 a0113 a0117 a0121 a0123	a0001c0001 a0001c0007 a0001c0013 others(71): Show a0001c0001 a0001c0007 a0001c0013 a0001c0033 a0001c0102 a0002c0017 a0002c0019 a0002c0056 a0002c0058 a0002c0059 a0002c0062 a0002c0120 a0002c0176 a0003c0002 a0003c0045 a0003c0151 a0004c0014 a0004c0100 a0005c0003 a0006c0015 a0006c0132 a0007c0016 a0011c0012 a0011c0090 a0011c0091 a0013c0078 a0014c0027 a0015c0008 a0016c0116 a0018c0155 a0019c0146 a0021c0037 a0021c0143 a0022c0106 a0023c0075 a0024c0092 a0027c0035 a0029c0125 a0030c0166 a0030c0167 a0031c0041 a0034c0070 a0034c0071 a0035c0026 a0038c0099 a0038c0109 a0042c0174 a0043c0022 a0044c0021 a0048c0168 a0050c0148 a0052c0152 a0055c0145 a0058c0158 a0069c0098 a0077c0087 a0079c0085 a0081c0079 a0087c0178 a0090c0064 a0091c0055 a0093c0177 a0094c0060 a0095c0057 a0096c0061 a0097c0171 a0098c0172 a0104c0133 a0106c0134 a0111c0124 a0113c0136 a0117c0110 a0121c0163 a0123c0048	a0001c0001t0002 a0001c0007t0002 a0001c0013t0001 others(71): Show a0001c0001t0002 a0001c0007t0002 a0001c0013t0001 a0001c0033t0002 a0001c0102t0002 a0002c0017t0001 a0002c0019t0001 a0002c0056t0001 a0002c0058t0002 a0002c0059t0001 a0002c0062t0002 a0002c0120t0001 a0002c0176t0001 a0003c0002t0002 a0003c0045t0002 a0003c0151t0001 a0004c0014t0002 a0004c0100t0002 a0005c0003t0002 a0006c0015t0002 a0006c0132t0002 a0007c0016t0001 a0011c0012t0002 a0011c0090t0001 a0011c0091t0001 a0013c0078t0002 a0014c0027t0001 a0015c0008t0001 a0016c0116t0001 a0018c0155t0002 a0019c0146t0001 a0021c0037t0002 a0021c0143t0001 a0022c0106t0003 a0023c0075t0001 a0024c0092t0001 a0027c0035t0001 a0029c0125t0002 a0030c0166t0002 a0030c0167t0001 a0031c0041t0001 a0034c0070t0002 a0034c0071t0001 a0035c0026t0001 a0038c0099t0002 a0038c0109t0002 a0042c0174t0001 a0043c0022t0001 a0044c0021t0002 a0048c0168t0001 a0050c0148t0002 a0052c0152t0002 a0055c0145t0001 a0058c0158t0001 a0069c0098t0001 a0077c0087t0001 a0079c0085t0001 a0081c0079t0001 a0087c0178t0001 a0090c0064t0002 a0091c0055t0001 a0093c0177t0001 a0094c0060t0001 a0095c0057t0002 a0096c0061t0001 a0097c0171t0002 a0098c0172t0001 a0104c0133t0002 a0106c0134t0001 a0111c0124t0002 a0113c0136t0002 a0117c0110t0001 a0121c0163t0002 a0123c0048t0001	a0001c0001t0002g0048 a0001c0001t0002g0158 a0001c0001t0002g0185 others(88): Show a0001c0001t0002g0048 a0001c0001t0002g0158 a0001c0001t0002g0185 a0001c0001t0002g0266 a0001c0007t0002g0036 a0001c0007t0002g0053 a0001c0007t0002g0221 a0001c0007t0002g0246 a0001c0013t0001g0090 a0001c0033t0002g0002 a0001c0033t0002g0027 a0001c0102t0002g0079 a0002c0017t0001g0113 a0002c0017t0001g0162 a0002c0019t0001g0008 a0002c0019t0001g0139 a0002c0056t0001g0081 a0002c0058t0002g0149 a0002c0059t0001g0044 a0002c0062t0002g0176 a0002c0120t0001g0074 a0002c0176t0001g0014 a0003c0002t0002g0039 a0003c0002t0002g0105 a0003c0045t0002g0052 a0003c0045t0002g0218 a0003c0151t0001g0143 a0004c0014t0002g0038 a0004c0014t0002g0222 a0004c0014t0002g0223 a0004c0100t0002g0054 a0005c0003t0002g0125 a0005c0003t0002g0167 a0005c0003t0002g0236 a0006c0015t0002g0133 a0006c0132t0002g0087 a0007c0016t0001g0007 a0011c0012t0002g0207 a0011c0090t0001g0255 a0011c0091t0001g0179 a0013c0078t0002g0171 a0014c0027t0001g0180 a0015c0008t0001g0174 a0016c0116t0001g0010 a0018c0155t0002g0215 a0019c0146t0001g0198 a0021c0037t0002g0190 a0021c0143t0001g0012 a0022c0106t0003g0155 a0023c0075t0001g0137 a0024c0092t0001g0260 a0027c0035t0001g0172 a0029c0125t0002g0034 a0030c0166t0002g0059 a0030c0167t0001g0271 a0031c0041t0001g0216 a0031c0041t0001g0253 a0034c0070t0002g0091 a0034c0071t0001g0070 a0035c0026t0001g0233 a0035c0026t0001g0234 a0038c0099t0002g0224 a0038c0109t0002g0165 a0042c0174t0001g0160 a0043c0022t0001g0232 a0044c0021t0002g0269 a0048c0168t0001g0272 a0050c0148t0002g0235 a0052c0152t0002g0029 a0055c0145t0001g0093 a0058c0158t0001g0230 a0069c0098t0001g0065 a0077c0087t0001g0225 a0079c0085t0001g0047 a0081c0079t0001g0080 a0087c0178t0001g0103 a0090c0064t0002g0144 a0091c0055t0001g0121 a0093c0177t0001g0072 a0094c0060t0001g0262 a0095c0057t0002g0134 a0096c0061t0001g0168 a0097c0171t0002g0163 a0098c0172t0001g0006 a0104c0133t0002g0241 a0106c0134t0001g0109 a0111c0124t0002g0050 a0113c0136t0002g0169 a0117c0110t0001g0055 a0121c0163t0002g0107 a0123c0048t0001g0011	91	278	0.3273	30	c.221 others(49): Show c.2213+3027_2213+3028insCACGTGTGTGTATATATGCACATATA TACA	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	18/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16967893	G G	GTGTGTAT others(23): Show GTGTGTATATATGCGCATATATACACACACA	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19067.hp1 NA19065.hp2 NA19067.hp1	a0026 a0026	a0026c0034 a0026c0034	a0026c0034t0002 a0026c0034t0002	a0026c0034t0002g0032 a0026c0034t0002g0033 a0026c0034t0002g0032 a0026c0034t0002g0033	2	278	0.0072	30	c.221 others(49): Show c.2213+2997_2213+2998insTGTGTGTGTATATATGCGCATATATA CACA	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	18/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16967893	G G	GTGTGTAT others(23): Show GTGTGTATATATGTGCATATATACACACACA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01099.hp2 HG01168.hp2 others(35): Show HG01081.hp1 HG01099.hp2 HG01168.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02027.hp2 HG02148.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02572.hp2 HG02895.hp1 HG02965.hp1 HG03098.hp1 HG03098.hp2 HG03471.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG04184.hp2 HG04204.hp2 NA19010.hp2 NA19043.hp1 NA19065.hp1 NA19070.hp1 NA19240.hp1	a0001 a0002 a0003 others(22): Show a0001 a0002 a0003 a0005 a0006 a0008 a0010 a0011 a0012 a0013 a0014 a0015 a0022 a0029 a0036 a0039 a0041 a0046 a0051 a0056 a0074 a0092 a0109 a0122 a0124	a0001c0001 a0002c0017 a0003c0002 others(28): Show a0001c0001 a0002c0017 a0003c0002 a0005c0003 a0005c0121 a0006c0006 a0006c0015 a0008c0009 a0008c0150 a0010c0004 a0011c0012 a0011c0084 a0012c0028 a0012c0083 a0013c0024 a0013c0049 a0014c0105 a0015c0008 a0022c0032 a0029c0067 a0036c0025 a0039c0107 a0041c0023 a0046c0036 a0051c0153 a0056c0072 a0074c0080 a0092c0173 a0109c0184 a0122c0162 a0124c0186	a0001c0001t0002 a0002c0017t0001 a0003c0002t0002 others(28): Show a0001c0001t0002 a0002c0017t0001 a0003c0002t0002 a0005c0003t0002 a0005c0121t0002 a0006c0006t0001 a0006c0015t0002 a0008c0009t0001 a0008c0150t0001 a0010c0004t0001 a0011c0012t0002 a0011c0084t0001 a0012c0028t0002 a0012c0083t0001 a0013c0024t0002 a0013c0049t0002 a0014c0105t0001 a0015c0008t0001 a0022c0032t0001 a0029c0067t0001 a0036c0025t0002 a0039c0107t0001 a0041c0023t0002 a0046c0036t0001 a0051c0153t0001 a0056c0072t0001 a0074c0080t0001 a0092c0173t0001 a0109c0184t0001 a0122c0162t0001 a0124c0186t0001	a0001c0001t0002g0277 a0002c0017t0001g0112 a0003c0002t0002g0196 others(35): Show a0001c0001t0002g0277 a0002c0017t0001g0112 a0003c0002t0002g0196 a0003c0002t0002g0200 a0005c0003t0002g0166 a0005c0121t0002g0267 a0006c0006t0001g0086 a0006c0006t0001g0131 a0006c0006t0001g0183 a0006c0006t0001g0205 a0006c0006t0001g0220 a0006c0015t0002g0110 a0008c0009t0001g0217 a0008c0150t0001g0273 a0010c0004t0001g0068 a0011c0012t0002g0210 a0011c0084t0001g0181 a0012c0028t0002g0177 a0012c0083t0001g0132 a0013c0024t0002g0178 a0013c0024t0002g0275 a0013c0049t0002g0170 a0014c0105t0001g0140 a0015c0008t0001g0005 a0022c0032t0001g0228 a0022c0032t0001g0229 a0029c0067t0001g0004 a0036c0025t0002g0264 a0039c0107t0001g0184 a0041c0023t0002g0157 a0046c0036t0001g0204 a0051c0153t0001g0237 a0056c0072t0001g0094 a0074c0080t0001g0082 a0092c0173t0001g0164 a0109c0184t0001g0057 a0122c0162t0001g0019 a0124c0186t0001g0049	38	278	0.1367	30	c.221 others(49): Show c.2213+2997_2213+2998insTGTGTGTGTATATATGCACATATATA CACA	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	18/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	17013512	A A	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01168.hp1 HG01169.hp1 others(26): Show HG00609.hp2 HG01168.hp1 HG01169.hp1 HG01978.hp1 HG02056.hp2 HG02109.hp2 HG02129.hp1 HG02257.hp1 HG02293.hp2 HG02451.hp2 HG02559.hp1 HG02622.hp1 HG02683.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03239.hp1 HG03486.hp1 HG03688.hp1 HG04199.hp1 HG04204.hp2 NA18971.hp2 NA18985.hp1 NA19002.hp2 NA19043.hp2 NA19066.hp1 NA19067.hp2 NA20129.hp1 NA20805.hp2	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0007 a0010 a0012 a0019 a0023 a0033 a0035 a0042 a0064 a0069 a0073 a0079 a0086 a0087 a0121	a0001c0001 a0002c0019 a0002c0058 others(20): Show a0001c0001 a0002c0019 a0002c0058 a0003c0002 a0004c0005 a0004c0014 a0004c0100 a0007c0016 a0007c0053 a0010c0004 a0012c0028 a0019c0039 a0023c0075 a0033c0040 a0035c0026 a0042c0175 a0064c0161 a0069c0098 a0073c0082 a0079c0085 a0086c0179 a0087c0178 a0121c0163	a0001c0001t0002 a0002c0019t0001 a0002c0058t0002 others(20): Show a0001c0001t0002 a0002c0019t0001 a0002c0058t0002 a0003c0002t0002 a0004c0005t0002 a0004c0014t0002 a0004c0100t0002 a0007c0016t0001 a0007c0053t0001 a0010c0004t0001 a0012c0028t0002 a0019c0039t0001 a0023c0075t0001 a0033c0040t0001 a0035c0026t0001 a0042c0175t0001 a0064c0161t0002 a0069c0098t0001 a0073c0082t0001 a0079c0085t0001 a0086c0179t0001 a0087c0178t0001 a0121c0163t0002	a0001c0001t0002g0185 a0002c0019t0001g0139 a0002c0058t0002g0149 others(26): Show a0001c0001t0002g0185 a0002c0019t0001g0139 a0002c0058t0002g0149 a0003c0002t0002g0092 a0003c0002t0002g0105 a0003c0002t0002g0200 a0004c0005t0002g0042 a0004c0005t0002g0188 a0004c0014t0002g0038 a0004c0100t0002g0054 a0007c0016t0001g0007 a0007c0053t0001g0156 a0010c0004t0001g0068 a0010c0004t0001g0201 a0012c0028t0002g0177 a0019c0039t0001g0227 a0019c0039t0001g0238 a0023c0075t0001g0137 a0033c0040t0001g0043 a0035c0026t0001g0233 a0035c0026t0001g0234 a0042c0175t0001g0075 a0064c0161t0002g0187 a0069c0098t0001g0065 a0073c0082t0001g0069 a0079c0085t0001g0047 a0086c0179t0001g0102 a0087c0178t0001g0103 a0121c0163t0002g0107	29	278	0.1043	30	c.268 others(47): Show c.268-1785_268-1756dupATTTTATTTTATTTTATTTTATTTTATT TT	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	3/41			chr19	TogoVar
CPB1_chr3_148822811_148865187	148846797	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	456	0.0022	30	c.981 others(47): Show c.981+1172_981+1173insGTGTGTGTGTGTATATATATATATATAT AT	CPB1	ENSG00000153002.12	transcript	ENST00000282957.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPB2_chr13_46048186_46110033	46108157	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00738.hp1 HG01993.hp2 others(15): Show HG00609.hp2 HG00738.hp1 HG01993.hp2 HG02145.hp2 HG02523.hp2 HG02922.hp1 HG03195.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03834.hp2 NA18951.hp1 NA18955.hp1 NA18968.hp1 NA18970.hp1 NA18985.hp1 NA19006.hp1 NA19089.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0160 a0002c0002t0001g0108 a0002c0002t0002g0002 others(13): Show a0001c0001t0001g0160 a0002c0002t0001g0108 a0002c0002t0002g0002 a0002c0002t0002g0008 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0020 a0002c0002t0002g0094 a0002c0002t0002g0097 a0002c0002t0002g0102 a0002c0002t0002g0125 a0002c0002t0002g0130 a0002c0002t0002g0137 a0002c0002t0002g0140 a0002c0002t0002g0144 a0002c0002t0002g0145	18	330	0.0546	30	c.-31 others(41): Show c.-3149_-3148insTATATATATATATATATATATATATATATA	CPB2	ENSG00000080618.17	transcript	ENST00000181383.10	protein_coding		3125		chr13	TogoVar
CPD_chr17_30373927_30474989	30470256	C C	CACACGTG others(23): Show CACACGTGTGTGTATGTATATGTATATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	296	0.0034	30	c.54 others(41): Show c.5442_*5443insACACGTGTGTGTATGTATATGTATATACAT	CPD	ENSG00000108582.12	transcript	ENST00000225719.9	protein_coding		268		chr17	TogoVar
CPD_chr17_30373927_30474989	30470278	T T	TACATACA others(23): Show TACATACATACGTGTGTATGTATATGTATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	296	0.0034	30	c.54 others(41): Show c.5464_*5465insACATACATACGTGTGTATGTATATGTATAC	CPD	ENSG00000108582.12	transcript	ENST00000225719.9	protein_coding		290		chr17	TogoVar
CPLX1_chr4_779957_831129	826466	C C	CGGGGCGG others(23): Show CGGGGCGGGGGCGGGGGTGGGGCGGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0337 a0001c0001t0002g0337	1	416	0.0024	30	c.-50 others(39): Show c.-501_-500insCGCCCCCCGCCCCACCCCCGCCCCCGCCCC	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		338		chr4	TogoVar
CPLX2_chr5_175866578_175889021	175871410	G G	GGAGAGAG others(23): Show GGAGAGAGAGAGAGAGAGAGACAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp2 HG01071.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0002g0019 a0001c0001t0001g0002 a0001c0001t0002g0019	2	378	0.0053	30	c.-38 others(39): Show c.-384_-383insGAGAGAGAGAGAGAGAGAGACAGAGAGAGA	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		167		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871433	C C	CAGAGAGA others(23): Show CAGAGAGAGAGAGAGAGAAAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0008 a0001c0001t0061g0008	1	378	0.0027	30	c.-36 others(39): Show c.-361_-360insAGAGAGAGAGAGAGAGAAAGAGAGAGAGAG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		144		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871433	C C	CAGAGAGA others(23): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	378	0.0027	30	c.-36 others(39): Show c.-361_-360insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		144		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871452	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGGGAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	378	0.0027	30	c.-34 others(39): Show c.-342_-341insGAGAGAGAGAGGGAGAGAGAGAGAGAGAGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		125		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871458	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	378	0.0027	30	c.-33 others(39): Show c.-336_-335insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		119		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871458	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGAGAGAGAGAGAGAGGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0002 a0001c0001t0066g0002	1	378	0.0027	30	c.-33 others(39): Show c.-336_-335insGAGAGAGAGAGAGAGAGAGAGAGAGGAGAG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		119		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871464	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGAAAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 NA18969.hp2 NA19054.hp2 others(1): Show HG00733.hp1 NA18969.hp2 NA19054.hp2 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0019 a0002c0002t0004 a0001c0001t0004 a0001c0001t0019 a0002c0002t0004	a0001c0001t0004g0004 a0001c0001t0019g0004 a0002c0002t0004g0004 a0001c0001t0004g0004 a0001c0001t0019g0004 a0002c0002t0004g0004	4	378	0.0106	30	c.-33 others(39): Show c.-330_-329insGAGAGAGAGAGAAAGAGAGAGAGAGAGAGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		113		chr5	TogoVar
CPM_chr12_68846175_68938171	68847196	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00639.hp1 others(15): Show HG00280.hp2 HG00408.hp1 HG00639.hp1 HG01496.hp2 HG01884.hp2 HG01993.hp1 HG02148.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02809.hp1 HG02976.hp1 HG03453.hp1 HG03490.hp2 HG03516.hp1 HG03579.hp1 NA19057.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0002c0008	a0001c0001t0001 a0001c0001t0066 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0066 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0068 a0002c0003t0003 a0002c0003t0029 a0002c0005t0005 a0002c0005t0023 a0002c0005t0035 a0002c0008t0001	a0001c0001t0001g0189 a0001c0001t0001g0207 a0001c0001t0001g0230 others(15): Show a0001c0001t0001g0189 a0001c0001t0001g0207 a0001c0001t0001g0230 a0001c0001t0001g0277 a0001c0001t0066g0256 a0001c0002t0001g0043 a0001c0002t0001g0144 a0001c0002t0001g0198 a0001c0002t0002g0264 a0001c0002t0004g0246 a0001c0002t0068g0299 a0002c0003t0003g0016 a0002c0003t0003g0033 a0002c0003t0029g0018 a0002c0005t0005g0014 a0002c0005t0023g0011 a0002c0005t0035g0017 a0002c0008t0001g0312	18	340	0.0529	30	c.92 others(41): Show c.9240_*9241insTATATATATATATATATATATATATATATA	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding		3978		chr12	TogoVar
CPM_chr12_68846175_68938171	68847210	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03225.hp2 HG03139.hp2 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0003 a0001c0006 a0002c0003	a0001c0006t0012 a0002c0003t0015 a0001c0006t0012 a0002c0003t0015	a0001c0006t0012g0241 a0002c0003t0015g0332 a0001c0006t0012g0241 a0002c0003t0015g0332	2	340	0.0059	30	c.92 others(41): Show c.9226_*9227insCATATATATATATATATATATATATATATA	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding		3964		chr12	TogoVar
CPNE4_chr3_131528569_132040014	131978048	G G	GATATATA others(23): Show GATATATATAAATATATATAAATATATATAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	94	0.0106	30	c.-2+ others(47): Show c.-2+56489_-2+56518dupTTATATATATTTATATATATTTATATAT AT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE7_chr16_89570758_89602246	89598099	C C	CCCATCCC others(23): Show CCCATCCCCCCCACCCATCCGTTCCACCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0292 a0001c0002t0005g0292	1	348	0.0029	30	c.14 others(41): Show c.1478_*1479insCCATCCCCCCCACCCATCCGTTCCACCCAT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		854		chr16	TogoVar
CPNE8_chr12_38647203_38910591	38704826	G G	GTATATAT others(23): Show GTATATATATGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01074.hp2 HG01433.hp1 others(8): Show HG00733.hp1 HG01074.hp2 HG01433.hp1 HG03017.hp1 HG03239.hp2 HG03453.hp2 NA18954.hp1 NA18968.hp1 NA18990.hp1 NA19085.hp1 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0010 a0001c0002t0002 a0001c0002t0010	a0001c0002t0002g0005 a0001c0002t0002g0019 a0001c0002t0002g0034 others(8): Show a0001c0002t0002g0005 a0001c0002t0002g0019 a0001c0002t0002g0034 a0001c0002t0002g0038 a0001c0002t0002g0072 a0001c0002t0002g0240 a0001c0002t0002g0292 a0001c0002t0002g0296 a0001c0002t0002g0340 a0001c0002t0010g0077 a0001c0002t0010g0078	11	342	0.0322	30	c.915 others(47): Show c.915-1906_915-1905insTATATATATATATATATACACATATATA TA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38717429	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	342	0.0029	30	c.914 others(47): Show c.914+6342_914+6343insTATATATATATATATATATATATATATA CA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38760435	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp2 HG02572.hp1 others(2): Show HG02055.hp1 HG02486.hp2 HG02572.hp1 HG02818.hp1 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0007 a0002c0005t0001 a0001c0001t0001 a0001c0001t0007 a0002c0005t0001	a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0332 others(2): Show a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0332 a0001c0001t0007g0339 a0002c0005t0001g0023	5	342	0.0146	30	c.722 others(45): Show c.722+411_722+412insTATATATATATATATATATATATATATATA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	10/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38902417	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	342	0.0029	30	c.98+ others(45): Show c.98+3019_98+3020insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPNE9_chr3_9698833_9734908	9731752	T T	TCGCCGCC others(23): Show TCGCCGCCGCTGCTGCCGCCGCCGCTGCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0329 a0001c0001t0001g0329	1	440	0.0023	30	c.20 others(41): Show c.2060_*2061insCGCCGCCGCTGCTGCCGCCGCCGCTGCTGC	CPNE9	ENSG00000144550.14	transcript	ENST00000383832.8	protein_coding		1845		chr3	TogoVar
CPPED1_chr16_12654799_12808887	12766256	T T	TATATATA others(23): Show TATATATATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0154 a0001c0001t0009g0154	1	290	0.0035	30	c.289 others(49): Show c.289+14928_289+14929insCTCTCTATATATATATATATATATAT ATAT	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	2/3			chr16	TogoVar

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