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
HTT_chr4_3069681_3248957	3083530	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0003 a0003	a0003c0024 a0003c0024	a0003c0024t0001 a0003c0024t0001	a0003c0024t0001g0079 a0003c0024t0001g0079	1	294	0.0034	-22	c.264 others(39): Show c.264-3373_264-3352delCACACACACACACACACACACA	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	1/66		INFO_REALIGN_3_PRIME	chr4	TogoVar
HUNK_chr21_31868020_32009064	31869153	GGTGTGTG others(15): Show GGTGTGTGTGGGTGTGTGTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02257.hp1 HG02717.hp2 others(3): Show HG01243.hp1 HG02257.hp1 HG02717.hp2 HG02970.hp1 HG02970.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0014	a0001c0001t0001 a0001c0002t0005 a0001c0005t0015 others(1): Show a0001c0001t0001 a0001c0002t0005 a0001c0005t0015 a0001c0014t0023	a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0002t0005g0017 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0002t0005g0017 a0001c0005t0015g0004 a0001c0005t0015g0006 a0001c0014t0023g0007	6	328	0.0183	-22	c.-45 others(33): Show c.-4521_-4500delGTGTGTGTGGGTGTGTGTGTGT	HUNK	ENSG00000142149.9	transcript	ENST00000270112.7	protein_coding		3866		chr21	TogoVar
HUNK_chr21_31868020_32009064	31917695	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02895.hp1 HG02895.hp2 others(8): Show HG00741.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03579.hp2 HG06807.hp2 NA20300.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0002c0003	a0001c0001t0001 a0001c0002t0005 a0001c0002t0006 others(4): Show a0001c0001t0001 a0001c0002t0005 a0001c0002t0006 a0001c0004t0008 a0001c0004t0011 a0001c0008t0007 a0002c0003t0053	a0001c0001t0001g0263 a0001c0002t0005g0217 a0001c0002t0005g0218 others(8): Show a0001c0001t0001g0263 a0001c0002t0005g0217 a0001c0002t0005g0218 a0001c0002t0006g0080 a0001c0004t0008g0260 a0001c0004t0008g0299 a0001c0004t0011g0016 a0001c0004t0011g0025 a0001c0008t0007g0264 a0001c0008t0007g0272 a0002c0003t0053g0031	11	328	0.0335	-22	c.262 others(39): Show c.262-6732_262-6711delACACACACACACACACACACAC	HUNK	ENSG00000142149.9	transcript	ENST00000270112.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
HUWE1_chrX_53527096_53691719	53542845	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01258.hp1 others(5): Show HG01069.hp1 HG01071.hp1 HG01258.hp1 HG01358.hp1 HG01496.hp1 HG01952.hp1 HG01981.hp2 HG04199.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0011 a0001c0001 a0002c0011	a0001c0001t0001 a0001c0001t0006 a0002c0011t0001 a0001c0001t0001 a0001c0001t0006 a0002c0011t0001	a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0106 others(5): Show a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0006g0005 a0001c0001t0006g0006 a0002c0011t0001g0109	8	214	0.0374	-22	c.113 others(41): Show c.11380-328_11380-307delCACACACACACACACACACACA	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding	73/83			chrX	TogoVar
HUWE1_chrX_53527096_53691719	53686645	TCAGCCCT others(15): Show TCAGCCCTGCTTCAGCCCTGCTC	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0002 a0001c0001t0010g0002	1	214	0.0047	-22	c.-34 others(31): Show c.-341_-320delGAGCAGGGCTGAAGCAGGGCTG	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding	1/84	32539		chrX	TogoVar
HYCC2_chr2_200968718_201076671	201023852	TATGTTTC others(15): Show TATGTTTCTCCATAGAGCACATA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG06807.hp2 HG02965.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0149 a0001c0001t0017g0150 a0001c0001t0017g0149 a0001c0001t0017g0150	2	176	0.0114	-22	c.51+ others(34): Show c.51+85_51+106delTATGTGCTCTATGGAGAAACAT	HYCC2	ENSG00000155744.10	transcript	ENST00000681958.1	protein_coding	3/12			chr2	TogoVar
HYCC2_chr2_200968718_201076671	201069543	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02615.hp1 others(2): Show HG01069.hp2 HG01071.hp1 HG02615.hp1 HG02647.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0014 a0001c0001t0035 a0001c0001t0008 a0001c0001t0014 a0001c0001t0035	a0001c0001t0008g0142 a0001c0001t0014g0139 a0001c0001t0014g0140 others(2): Show a0001c0001t0008g0142 a0001c0001t0014g0139 a0001c0001t0014g0140 a0001c0001t0014g0141 a0001c0001t0035g0143	5	176	0.0284	-22	c.-12 others(41): Show c.-129+2045_-129+2066delGTGTGTGTGTGTGTGTGTGTGT	HYCC2	ENSG00000155744.10	transcript	ENST00000681958.1	protein_coding	1/12			chr2	TogoVar
HYDIN_chr16_70797084_71235722	70864330	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA20905.hp1 HG01496.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0094 a0001c0002t0003g0173 a0001c0001t0001g0094 a0001c0002t0003g0173	2	174	0.0115	-22	c.114 others(43): Show c.11472-1170_11472-1149delTTTTTTTTTTTTTTTTTTTTTT	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	67/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	70900914	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0013 a0013	a0013c0083 a0013c0083	a0013c0083t0006 a0013c0083t0006	a0013c0083t0006g0116 a0013c0083t0006g0116	1	174	0.0058	-22	c.904 others(37): Show c.9048+68_9048+89delCACACACACACACACACACACA	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	53/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	70904478	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	174	0.0058	-22	c.851 others(39): Show c.8517-436_8517-415delAAAAAAAAAAAAAAAAAAAAAA	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	50/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	70907850	CAGCCAGG others(15): Show CAGCCAGGTGCTTTTCTGTAGTG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02647.hp2 HG02451.hp1 HG02647.hp2	a0001 a0031 a0001 a0031	a0001c0062 a0031c0070 a0001c0062 a0031c0070	a0001c0062t0013 a0031c0070t0001 a0001c0062t0013 a0031c0070t0001	a0001c0062t0013g0104 a0031c0070t0001g0042 a0001c0062t0013g0104 a0031c0070t0001g0042	2	174	0.0115	-22	c.839 others(39): Show c.8396+380_8397-360delCACTACAGAAAAGCACCTGGCT	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	49/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	70927559	CTGCTGGG others(15): Show CTGCTGGGCAGGAGCAGTCAAAG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01081.hp2 HG01256.hp2 others(12): Show HG00642.hp1 HG01081.hp2 HG01256.hp2 HG01928.hp1 HG02602.hp1 HG03492.hp2 HG03669.hp2 HG04199.hp1 NA18944.hp1 NA18960.hp2 NA18969.hp2 NA19004.hp2 NA19010.hp1 NA19086.hp1 NA20905.hp2	a0001 a0020 a0021 others(1): Show a0001 a0020 a0021 a0022	a0001c0001 a0001c0002 a0001c0078 others(3): Show a0001c0001 a0001c0002 a0001c0078 a0020c0030 a0021c0025 a0022c0026	a0001c0001t0001 a0001c0001t0025 a0001c0001t0028 others(5): Show a0001c0001t0001 a0001c0001t0025 a0001c0001t0028 a0001c0002t0002 a0001c0078t0001 a0020c0030t0001 a0021c0025t0001 a0022c0026t0001	a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0085 others(12): Show a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0025g0106 a0001c0001t0028g0077 a0001c0002t0002g0009 a0001c0002t0002g0014 a0001c0002t0002g0016 a0001c0078t0001g0095 a0020c0030t0001g0059 a0021c0025t0001g0060 a0022c0026t0001g0057	15	174	0.0862	-22	c.715 others(41): Show c.7159-6364_7159-6343delCTTTGACTGCTCCTGCCCAGCA	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	45/85			chr16	TogoVar
HYLS1_chr11_125882668_125905646	125902748	AGCAATCG others(15): Show AGCAATCGTGGTCTGTATGTAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	436	0.0023	-22	c.24 others(33): Show c.2481_*2502delGCAATCGTGGTCTGTATGTAAG	HYLS1	ENSG00000198331.11	transcript	ENST00000425380.7	protein_coding		2103		chr11	TogoVar
HYOU1_chr11_119039188_119062205	119050719	CCAAAAAA others(15): Show CCAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp2 HG02055.hp1 HG02622.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0018 a0001c0006t0018	a0001c0006t0018g0081 a0001c0006t0018g0082 a0001c0006t0018g0081 a0001c0006t0018g0082	2	414	0.0048	-22	c.166 others(39): Show c.1665+294_1665+315delTTTTTTTTTTTTTTTTTTTTTG	HYOU1	ENSG00000149428.21	transcript	ENST00000617285.5	protein_coding	14/25			chr11	TogoVar
IAH1_chr2_9469551_9494742	9487817	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0080 a0001c0001t0040g0080	1	342	0.0029	-22	c.565 others(37): Show c.565-328_565-307delTGTGTGTGTGTGTGTGCGCGCG	IAH1	ENSG00000134330.19	transcript	ENST00000497473.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
IBSP_chr4_87794554_87817435	87813979	CATATATA others(15): Show CATATATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01517.hp1 HG02922.hp2 others(5): Show HG00733.hp1 HG01517.hp1 HG02922.hp2 HG03098.hp2 NA18977.hp1 NA19010.hp1 NA20300.hp2 NA20805.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0007 a0011	a0001c0001 a0003c0003 a0004c0004 others(2): Show a0001c0001 a0003c0003 a0004c0004 a0007c0007 a0011c0009	a0001c0001t0001 a0003c0003t0001 a0003c0003t0006 others(3): Show a0001c0001t0001 a0003c0003t0001 a0003c0003t0006 a0004c0004t0001 a0007c0007t0003 a0011c0009t0001	a0001c0001t0001g0001 a0003c0003t0001g0016 a0003c0003t0001g0037 others(4): Show a0001c0001t0001g0001 a0003c0003t0001g0016 a0003c0003t0001g0037 a0003c0003t0006g0011 a0004c0004t0001g0003 a0007c0007t0003g0005 a0011c0009t0001g0016	8	454	0.0176	-22	c.20 others(33): Show c.2070_*2091delATATATATATATATATATATAT	IBSP	ENSG00000029559.7	transcript	ENST00000226284.7	protein_coding		1545		chr4	TogoVar
ICA1L_chr2_202768176_202876766	202839558	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(66): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00597.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01123.hp1 HG01169.hp1 HG01255.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG02056.hp2 HG02165.hp1 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02559.hp2 HG02602.hp2 HG03017.hp2 HG03209.hp1 HG03490.hp1 HG03688.hp2 HG03831.hp1 HG04115.hp1 HG04228.hp1 HG06807.hp2 NA18747.hp2 NA18940.hp1 NA18945.hp2 NA18946.hp2 NA18949.hp2 NA18951.hp1 NA18954.hp2 NA18959.hp1 NA18961.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19057.hp1 NA19062.hp1 NA19063.hp1 NA19065.hp2 NA19070.hp1 NA19077.hp1 NA19086.hp1 NA19088.hp2 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 others(10): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0048 a0001c0001t0049 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0006t0035	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0018 others(65): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0264 a0001c0001t0001g0268 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0007g0252 a0001c0001t0011g0147 a0001c0001t0011g0149 a0001c0001t0011g0259 a0001c0001t0011g0261 a0001c0001t0012g0183 a0001c0001t0012g0201 a0001c0001t0012g0212 a0001c0001t0012g0246 a0001c0001t0028g0178 a0001c0001t0029g0175 a0001c0001t0029g0251 a0001c0001t0032g0192 a0001c0001t0048g0220 a0001c0001t0049g0152 a0001c0001t0062g0242 a0001c0001t0063g0226 a0001c0001t0064g0262 a0001c0006t0035g0245	69	330	0.2091	-22	c.-7- others(39): Show c.-7-10564_-7-10543delCACACACACACACACACACACA	ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	1/12			chr2	TogoVar
ICA1_chr7_8108184_8267167	8148048	GCATCCTG others(15): Show GCATCCTGTCTAGGACTGGTTCC	G G	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18971.hp2 NA18953.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0269 a0001c0001t0001g0202 a0001c0001t0001g0269	2	274	0.0073	-22	c.805 others(39): Show c.805-4098_805-4077delGGAACCAGTCCTAGACAGGATG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
ICA1_chr7_8108184_8267167	8156937	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0113 a0001c0001t0003g0113	1	274	0.0037	-22	c.804 others(37): Show c.804+157_804+178delCTTTCTTTTTTTTTTTTTTTTT	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
ICAM2_chr17_63997595_64025633	64014616	GGAGAGAG others(15): Show GGAGAGAGAGAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02895.hp2 HG03927.hp2 HG02717.hp1 HG02895.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0002g0337 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0002g0337	3	392	0.0077	-22	c.-45 others(39): Show c.-45+5885_-45+5906delTTTCTTTCTTTCTCTCTCTCTC	ICAM2	ENSG00000108622.11	transcript	ENST00000579788.6	protein_coding	1/4			chr17	TogoVar
ICE2_chr15_60414609_60484142	60434520	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00639.hp2 others(53): Show HG00099.hp1 HG00438.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG01109.hp1 HG01169.hp1 HG01256.hp2 HG01361.hp1 HG01496.hp2 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG02071.hp1 HG02109.hp1 HG02145.hp2 HG02258.hp1 HG02273.hp2 HG02486.hp1 HG02523.hp1 HG02602.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03195.hp2 HG03209.hp1 HG03486.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG04204.hp2 NA18747.hp2 NA18941.hp2 NA18954.hp2 NA18964.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18989.hp1 NA19062.hp1 NA19086.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0014 others(4): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0014 a0001c0002t0022 a0001c0002t0025 a0001c0002t0026 a0001c0002t0038	a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0010 others(50): Show a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0061 a0001c0002t0001g0066 a0001c0002t0001g0073 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0090 a0001c0002t0001g0093 a0001c0002t0001g0101 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0124 a0001c0002t0001g0126 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0004g0070 a0001c0002t0004g0071 a0001c0002t0004g0072 a0001c0002t0014g0108 a0001c0002t0014g0125 a0001c0002t0022g0122 a0001c0002t0025g0105 a0001c0002t0026g0076 a0001c0002t0038g0253	56	270	0.2074	-22	c.251 others(41): Show c.2510+1601_2510+1622delGTGTGTGTGTGTGTGTGTGTGT	ICE2	ENSG00000128915.12	transcript	ENST00000261520.9	protein_coding	13/15			chr15	TogoVar
IDH2_chr15_90078045_90107468	90105503	AAGGCAAA others(15): Show AAGGCAAACTCCTTGAGCTCAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0036 a0001c0009t0002g0036	1	440	0.0023	-22	c.-31 others(33): Show c.-3135_-3114delCCTGAGCTCAAGGAGTTTGCCT	IDH2	ENSG00000182054.10	transcript	ENST00000330062.8	protein_coding		3036		chr15	TogoVar
IDI2_chr10_1013910_1030859	1028750	ATTTCATT others(15): Show ATTTCATTTAAGTAACAGCTAGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0000 a0000	a0000c0010 a0000c0010	a0000c0010t0001 a0000c0010t0001	a0000c0010t0001g0056 a0000c0010t0001g0056	1	434	0.0023	-22	c.-29 others(33): Show c.-2978_-2957delACTAGCTGTTACTTAAATGAAA	IDI2	ENSG00000148377.6	transcript	ENST00000277517.2	protein_coding		2892		chr10	TogoVar
IER3_chr6_30738199_30749547	30746541	AATATATA others(15): Show AATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	449	0.0022	-22	c.-20 others(33): Show c.-2045_-2024delATATATATATATATATATATAT	IER3	ENSG00000137331.12	transcript	ENST00000259874.6	protein_coding		1995		chr6	TogoVar
IER3_chr6_30738199_30749547	30746573	TATATATA others(15): Show TATATATATATATATATATATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 NA18906.hp1 HG03516.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	2	449	0.0045	-22	c.-20 others(33): Show c.-2077_-2056delTTATATATATATATATATATAT	IER3	ENSG00000137331.12	transcript	ENST00000259874.6	protein_coding		2027		chr6	TogoVar
IFI16_chr1_159004907_159060151	159021939	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02965.hp2 HG03540.hp2 HG02735.hp1 HG02965.hp2 HG03540.hp2	a0003 a0005 a0007 a0003 a0005 a0007	a0003c0005 a0005c0008 a0007c0009 a0003c0005 a0005c0008 a0007c0009	a0003c0005t0001 a0005c0008t0001 a0007c0009t0001 a0003c0005t0001 a0005c0008t0001 a0007c0009t0001	a0003c0005t0001g0053 a0005c0008t0001g0211 a0007c0009t0001g0115 a0003c0005t0001g0053 a0005c0008t0001g0211 a0007c0009t0001g0115	3	320	0.0094	-22	c.116 others(41): Show c.1161+1431_1161+1452delTTTTTTTTTTTTTTTTTTTTTT	IFI16	ENSG00000163565.20	transcript	ENST00000295809.12	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
IFI16_chr1_159004907_159060151	159044344	GTTAAAAT others(15): Show GTTAAAATGTCTGCAGTTTATTT	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02027.hp1 NA18969.hp2 HG00558.hp1 HG02027.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0159 a0001c0001t0001g0176 a0001c0001t0001g0146 a0001c0001t0001g0159 a0001c0001t0001g0176	3	320	0.0094	-22	c.133 others(39): Show c.1330-947_1330-926delATGTCTGCAGTTTATTTTTAAA	IFI16	ENSG00000163565.20	transcript	ENST00000295809.12	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
IFIH1_chr2_162262074_162323684	162314462	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02615.hp2 HG02922.hp2 others(4): Show HG00639.hp1 HG02615.hp2 HG02922.hp2 HG03098.hp1 HG03139.hp2 HG03453.hp2 HG03579.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0002 a0001c0004t0004 a0001c0005t0003 a0001c0004t0002 a0001c0004t0004 a0001c0005t0003	a0001c0004t0002g0075 a0001c0004t0004g0006 a0001c0004t0004g0007 others(2): Show a0001c0004t0002g0075 a0001c0004t0004g0006 a0001c0004t0004g0007 a0001c0005t0003g0190 a0001c0005t0003g0191	7	220	0.0318	-22	c.453 others(39): Show c.453+3371_453+3392delGAAAGAAAGAAAGAAAGAAAGA	IFIH1	ENSG00000115267.10	transcript	ENST00000649979.2	protein_coding	1/15			chr2	TogoVar
IFIH1_chr2_162262074_162323684	162321883	CATATATA others(15): Show CATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02647.hp1 HG02895.hp2 others(5): Show HG02615.hp1 HG02647.hp1 HG02895.hp2 HG02970.hp2 HG03098.hp2 HG03453.hp1 HG06807.hp1 NA18522.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0004 a0001c0015 a0002c0001 others(1): Show a0001c0004 a0001c0015 a0002c0001 a0009c0012	a0001c0004t0002 a0001c0004t0005 a0001c0015t0005 others(2): Show a0001c0004t0002 a0001c0004t0005 a0001c0015t0005 a0002c0001t0001 a0009c0012t0002	a0001c0004t0002g0065 a0001c0004t0002g0100 a0001c0004t0005g0188 others(5): Show a0001c0004t0002g0065 a0001c0004t0002g0100 a0001c0004t0005g0188 a0001c0015t0005g0189 a0002c0001t0001g0099 a0002c0001t0001g0102 a0002c0001t0001g0113 a0009c0012t0002g0111	8	220	0.0364	-22	c.-35 others(33): Show c.-3598_-3577delATATATATATATATATATATAT	IFIH1	ENSG00000115267.10	transcript	ENST00000649979.2	protein_coding		3200		chr2	TogoVar
IFIH1_chr2_162262074_162323684	162321913	TATATATA others(15): Show TATATATATATATATATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0055 a0001c0003t0001g0055	1	220	0.0046	-22	c.-36 others(33): Show c.-3628_-3607delGTATATATATATATATATATAT	IFIH1	ENSG00000115267.10	transcript	ENST00000649979.2	protein_coding		3230		chr2	TogoVar
IFIT1B_chr10_89373056_89390205	89389508	CCAGATCA others(15): Show CCAGATCACTAGATCCTATTCTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	440	0.0023	-22	c.47 others(33): Show c.4771_*4792delCAGATCACTAGATCCTATTCTA	IFIT1B	ENSG00000204010.3	transcript	ENST00000371809.3	protein_coding		4304		chr10	TogoVar
IFIT1_chr10_89387623_89411487	89394577	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00642.hp2 HG02145.hp2 others(5): Show HG00423.hp2 HG00642.hp2 HG02145.hp2 HG02809.hp2 HG03139.hp1 NA18964.hp1 NA18997.hp2 NA19064.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0001c0001t0003 a0003c0007t0003 a0001c0001t0001 a0001c0001t0003 a0003c0007t0003	a0001c0001t0001g0111 a0001c0001t0003g0012 a0003c0007t0003g0012 a0001c0001t0001g0111 a0001c0001t0003g0012 a0003c0007t0003g0012	8	430	0.0186	-22	c.5+1 others(35): Show c.5+1890_5+1911delTATATATATATATATATATATA	IFIT1	ENSG00000185745.10	transcript	ENST00000371804.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
IFIT1_chr10_89387623_89411487	89394607	TATATATA others(15): Show TATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01257.hp2 HG01496.hp1 others(26): Show HG00673.hp1 HG01257.hp2 HG01496.hp1 HG01934.hp1 HG02004.hp1 HG02015.hp1 HG02165.hp1 HG02615.hp2 HG02809.hp1 HG03225.hp2 HG04115.hp1 NA18945.hp1 NA18946.hp2 NA18955.hp2 NA18962.hp1 NA18975.hp2 NA18980.hp1 NA18989.hp1 NA18994.hp1 NA19002.hp2 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19066.hp2 NA19070.hp1 NA19076.hp2 NA19082.hp2 NA19085.hp1 NA19091.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0014 a0008c0008 a0001c0001 a0001c0014 a0008c0008	a0001c0001t0003 a0001c0001t0004 a0001c0014t0034 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0014t0034 a0008c0008t0004	a0001c0001t0003g0005 a0001c0001t0003g0034 a0001c0001t0003g0142 others(4): Show a0001c0001t0003g0005 a0001c0001t0003g0034 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0004g0005 a0001c0014t0034g0079 a0008c0008t0004g0005	29	430	0.0674	-22	c.5+1 others(35): Show c.5+1892_5+1913delTATATATATATATATATATAAA	IFIT1	ENSG00000185745.10	transcript	ENST00000371804.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
IFNAR2_chr21_33224938_33270664	33242758	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01975.hp1 HG02055.hp1 others(7): Show HG01884.hp1 HG01975.hp1 HG02055.hp1 HG02055.hp2 HG02717.hp1 HG02886.hp1 HG02976.hp2 HG03579.hp2 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 a0001c0001t0038	a0001c0001t0001g0170 a0001c0001t0006g0318 a0001c0001t0007g0151 others(7): Show a0001c0001t0001g0170 a0001c0001t0006g0318 a0001c0001t0007g0151 a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0168 a0001c0001t0007g0169 a0001c0001t0007g0171 a0001c0001t0014g0307 a0001c0001t0038g0172	10	424	0.0236	-22	c.55+ others(35): Show c.55+806_55+827delGTGTGTGTGTGTGTGTGTGTGT	IFNAR2	ENSG00000159110.22	transcript	ENST00000342136.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr21	TogoVar
IFNL1_chr19_39291407_39303673	39299192	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	302	0.0066	-22	c.67 others(31): Show c.677_*698delAAAAAAAAAAAAAAAAAAAAAA	IFNL1	ENSG00000182393.3	transcript	ENST00000333625.3	protein_coding		520		chr19	TogoVar
IFNLR1_chr1_24149168_24192289	24162756	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01981.hp1 HG02886.hp1 others(12): Show HG00597.hp2 HG01981.hp1 HG02886.hp1 HG03942.hp2 HG04204.hp1 HG04204.hp2 NA18945.hp2 NA18948.hp1 NA18949.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp2 NA19043.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0039	a0001c0001t0001g0266 a0001c0001t0001g0304 a0001c0001t0001g0335 others(11): Show a0001c0001t0001g0266 a0001c0001t0001g0304 a0001c0001t0001g0335 a0001c0001t0003g0008 a0001c0001t0003g0139 a0001c0001t0003g0257 a0001c0001t0004g0072 a0001c0001t0007g0199 a0001c0001t0007g0285 a0001c0001t0007g0286 a0001c0001t0007g0288 a0001c0001t0007g0300 a0001c0001t0009g0084 a0001c0001t0039g0160	15	396	0.0379	-22	c.368 others(39): Show c.368-1094_368-1073delAAGAAAGAAAGAAAGAAAGAAA	IFNLR1	ENSG00000185436.12	transcript	ENST00000327535.6	protein_coding	3/6			chr1	TogoVar
IFNLR1_chr1_24149168_24192289	24162770	TTCTTTCT others(15): Show TTCTTTCTTTTTCTTTCTTTTTC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02895.hp2 HG02897.hp2 others(1): Show HG01884.hp1 HG02895.hp2 HG02897.hp2 HG03486.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0112 a0002c0004t0006g0113 a0002c0004t0006g0115 others(1): Show a0002c0004t0006g0112 a0002c0004t0006g0113 a0002c0004t0006g0115 a0002c0004t0006g0190	4	396	0.0101	-22	c.368 others(39): Show c.368-1108_368-1087delGAAAAAGAAAGAAAAAGAAAGA	IFNLR1	ENSG00000185436.12	transcript	ENST00000327535.6	protein_coding	3/6			chr1	TogoVar
IFNLR1_chr1_24149168_24192289	24162797	TTTCTTTT others(15): Show TTTCTTTTTTCTTTCTTTTTTTC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0006 a0003c0005t0006	a0003c0005t0006g0372 a0003c0005t0006g0372	1	396	0.0025	-22	c.368 others(39): Show c.368-1135_368-1114delGAAAAAAAGAAAGAAAAAAGAA	IFNLR1	ENSG00000185436.12	transcript	ENST00000327535.6	protein_coding	3/6			chr1	TogoVar
IFT122_chr3_129435224_129525507	129465114	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp2 HG01123.hp1 others(6): Show HG00140.hp1 HG00738.hp2 HG01123.hp1 HG01175.hp2 HG01361.hp1 HG01884.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1	a0001 a0001	a0001c0004 a0001c0007 a0001c0004 a0001c0007	a0001c0004t0001 a0001c0007t0001 a0001c0004t0001 a0001c0007t0001	a0001c0004t0001g0326 a0001c0004t0001g0327 a0001c0004t0001g0330 others(6): Show a0001c0004t0001g0326 a0001c0004t0001g0327 a0001c0004t0001g0330 a0001c0004t0001g0331 a0001c0004t0001g0332 a0001c0004t0001g0333 a0001c0007t0001g0334 a0001c0007t0001g0335 a0001c0007t0001g0336	9	356	0.0253	-22	c.563 others(37): Show c.563+359_563+380delTGTGTGTGTGTGTGTGTGTGTG	IFT122	ENSG00000163913.14	transcript	ENST00000348417.7	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
IFT43_chr14_75980763_76088742	75999251	ATATATAT others(15): Show ATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0370 a0001c0001t0001g0370	1	396	0.0025	-22	c.147 others(41): Show c.147+10284_147+10305delATATATATATATGTATATATAT	IFT43	ENSG00000119650.13	transcript	ENST00000314067.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
IFT74_chr9_26951412_27071134	27031781	TAAATAAA others(15): Show TAAATAAAATAAAATGTAAAATA	T T	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0294 a0001c0001t0003g0294	1	342	0.0029	-22	c.105 others(41): Show c.1054+2702_1054+2723delATAAAATAAAATGTAAAATAAA	IFT74	ENSG00000096872.17	transcript	ENST00000380062.10	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
IFT80_chr3_160251986_160404225	160312786	ATATATAT others(15): Show ATATATATATAATAAATGTATAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0014 a0002c0006t0002g0014	1	212	0.0047	-22	c.958 others(39): Show c.958-5027_958-5006delATATACATTTATTATATATATA	IFT80	ENSG00000068885.15	transcript	ENST00000326448.12	protein_coding	9/19			chr3	TogoVar
IFT81_chr12_110119357_110223793	110179724	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01243.hp2 others(13): Show HG01168.hp1 HG01169.hp1 HG01243.hp2 HG01891.hp1 HG02109.hp2 HG02257.hp2 HG02818.hp1 HG03195.hp2 HG03486.hp2 HG03579.hp2 NA18948.hp1 NA18974.hp2 NA18994.hp1 NA19002.hp1 NA19043.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0024 others(13): Show a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0002c0002t0001g0012 a0002c0002t0001g0046 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053	16	218	0.0734	-22	c.118 others(39): Show c.1189-669_1189-648delTATATATATATATATATATATA	IFT81	ENSG00000122970.16	transcript	ENST00000242591.10	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
IGDCC3_chr15_65322127_65383002	65370602	GTGTATAT others(15): Show GTGTATATATATGTATGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0113 a0001c0001t0006g0113	1	314	0.0032	-22	c.409 others(39): Show c.409+4473_409+4494delTATACACATACATATATATACA	IGDCC3	ENSG00000174498.14	transcript	ENST00000327987.9	protein_coding	2/13			chr15	TogoVar
IGF1R_chr15_98643539_98969530	98835107	ACACCCCT others(15): Show ACACCCCTACACCCACACACACC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02698.hp1 HG02922.hp2 others(2): Show HG02145.hp2 HG02698.hp1 HG02922.hp2 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0011 a0001c0001 a0001c0007 a0001c0011	a0001c0001t0001 a0001c0001t0091 a0001c0007t0086 others(2): Show a0001c0001t0001 a0001c0001t0091 a0001c0007t0086 a0001c0007t0106 a0001c0011t0072	a0001c0001t0001g0011 a0001c0001t0091g0196 a0001c0007t0086g0104 others(2): Show a0001c0001t0001g0011 a0001c0001t0091g0196 a0001c0007t0086g0104 a0001c0007t0106g0194 a0001c0011t0072g0105	5	210	0.0238	-22	c.641 others(41): Show c.641-56176_641-56155delACCCACCCCTACACCCACACAC	IGF1R	ENSG00000140443.15	transcript	ENST00000650285.1	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
IGF1R_chr15_98643539_98969530	98850871	TTGATTGA others(15): Show TTGATTGAGTGCATATTGTGGAC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01496.hp1 HG02257.hp2 others(26): Show HG01261.hp2 HG01496.hp1 HG02257.hp2 HG02280.hp2 HG02602.hp2 HG02717.hp2 HG02735.hp2 HG02886.hp2 HG03098.hp1 HG03098.hp2 HG03453.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18948.hp1 NA18960.hp2 NA18970.hp2 NA18971.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA19002.hp1 NA19010.hp2 NA19043.hp1 NA19056.hp2 NA19074.hp1 NA19240.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0010 a0001c0017 a0001c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(26): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0001c0001t0036 a0001c0001t0041 a0001c0001t0043 a0001c0001t0055 a0001c0001t0057 a0001c0001t0064 a0001c0001t0090 a0001c0001t0102 a0001c0001t0103 a0001c0001t0137 a0001c0002t0005 a0001c0002t0083 a0001c0002t0145 a0001c0003t0038 a0001c0004t0096 a0001c0004t0097 a0001c0004t0111 a0001c0005t0004 a0001c0005t0085 a0001c0005t0141 a0001c0008t0068 a0001c0010t0099 a0001c0017t0075 a0001c0019t0094	a0001c0001t0001g0012 a0001c0001t0003g0135 a0001c0001t0004g0136 others(26): Show a0001c0001t0001g0012 a0001c0001t0003g0135 a0001c0001t0004g0136 a0001c0001t0008g0090 a0001c0001t0012g0069 a0001c0001t0036g0142 a0001c0001t0041g0148 a0001c0001t0043g0141 a0001c0001t0055g0140 a0001c0001t0057g0155 a0001c0001t0064g0002 a0001c0001t0090g0197 a0001c0001t0102g0173 a0001c0001t0103g0163 a0001c0001t0137g0059 a0001c0002t0005g0041 a0001c0002t0083g0097 a0001c0002t0145g0192 a0001c0003t0038g0137 a0001c0004t0096g0177 a0001c0004t0097g0180 a0001c0004t0111g0029 a0001c0005t0004g0111 a0001c0005t0085g0074 a0001c0005t0141g0039 a0001c0008t0068g0092 a0001c0010t0099g0181 a0001c0017t0075g0159 a0001c0019t0094g0176	29	210	0.1381	-22	c.641 others(41): Show c.641-40453_641-40432delTGATTGAGTGCATATTGTGGAC	IGF1R	ENSG00000140443.15	transcript	ENST00000650285.1	protein_coding	2/20			chr15	TogoVar
IGF1R_chr15_98643539_98969530	98898844	GCAACTAT others(15): Show GCAACTATTTTTCCAACTATTTT	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0096 a0001c0001t0016g0096	1	210	0.0048	-22	c.110 others(39): Show c.1103-609_1103-588delAACTATTTTTCCAACTATTTTC	IGF1R	ENSG00000140443.15	transcript	ENST00000650285.1	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
IGF2BP1_chr17_48992385_49061145	49019904	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02027.hp1 HG00621.hp2 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0233 a0001c0001t0003g0271 a0001c0001t0003g0233 a0001c0001t0003g0271	2	318	0.0063	-22	c.237 others(39): Show c.237-5690_237-5669delATATATATATATATATATATAT	IGF2BP1	ENSG00000159217.10	transcript	ENST00000290341.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
IGF2BP2_chr3_185638130_185830042	185811857	TCTCTCTC others(15): Show TCTCTCTCTCTCTCTCTCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA20129.hp2 HG03579.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0103 a0001c0001t0019g0100 a0001c0001t0001g0103 a0001c0001t0019g0100	2	216	0.0093	-22	c.239 others(41): Show c.239+11274_239+11295delGGAGAGAGAGAGAGAGAGAGAG	IGF2BP2	ENSG00000073792.16	transcript	ENST00000382199.7	protein_coding	2/15			chr3	TogoVar
IGF2BP2_chr3_185638130_185830042	185820227	TATACACA others(15): Show TATACACATACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0205 a0001c0001t0004g0205	1	216	0.0046	-22	c.239 others(39): Show c.239+2904_239+2925delGTGTGTGTGTGTGTATGTGTAT	IGF2BP2	ENSG00000073792.16	transcript	ENST00000382199.7	protein_coding	2/15			chr3	TogoVar

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