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	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
SAMD11_chr1_918923_949574	932975	GCGTGGGC others(32): Show GCGTGGGCAGCTGGGGTCACACCTGCCAGGCTCTGGCCTC	G G	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	434	0.0023	-39	c.842 others(56): Show c.842+1888_842+1926delGTGGGCAGCTGGGGTCACACCTGCCAGG CTCTGGCCTCC		SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	936264	AGGGGTCC others(32): Show AGGGGTCCCCGGTCCCGCCTCCTAGGGCTCCTGGACGGAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(242): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18956.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19057.hp1 NA19064.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0007 a0010 a0011 a0015 a0017 a0020 a0023 a0026 a0027	a0001c0001 a0001c0002 a0001c0004 others(23): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0011 a0001c0017 a0001c0029 a0001c0032 a0001c0033 a0001c0046 a0002c0003 a0002c0026 a0002c0049 a0003c0006 a0004c0008 a0004c0036 a0007c0012 a0010c0015 a0011c0043 a0011c0044 a0015c0022 a0017c0051 a0020c0039 a0023c0042 a0026c0038 a0027c0047	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(39): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0032 a0001c0001t0033 a0001c0002t0002 a0001c0002t0004 a0001c0002t0009 a0001c0002t0020 a0001c0002t0023 a0001c0002t0025 a0001c0002t0026 a0001c0004t0001 a0001c0004t0003 a0001c0004t0012 a0001c0004t0027 a0001c0005t0001 a0001c0011t0002 a0001c0011t0006 a0001c0017t0001 a0001c0029t0002 a0001c0032t0002 a0001c0033t0002 a0001c0046t0014 a0002c0003t0004 a0002c0026t0002 a0002c0049t0004 a0003c0006t0001 a0003c0006t0002 a0004c0008t0017 a0004c0036t0002 a0007c0012t0001 a0010c0015t0002 a0011c0043t0001 a0011c0044t0031 a0015c0022t0001 a0017c0051t0001 a0020c0039t0005 a0023c0042t0001 a0026c0038t0002 a0027c0047t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(189): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0003g0158 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0206 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0005g0007 a0001c0001t0005g0037 a0001c0001t0005g0050 a0001c0001t0005g0121 a0001c0001t0005g0122 a0001c0001t0005g0124 a0001c0001t0005g0125 a0001c0001t0005g0126 a0001c0001t0005g0127 a0001c0001t0005g0128 a0001c0001t0005g0136 a0001c0001t0005g0144 a0001c0001t0013g0157 a0001c0001t0032g0100 a0001c0001t0033g0008 a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0262 a0001c0002t0002g0329 a0001c0002t0002g0330 a0001c0002t0002g0331 a0001c0002t0002g0332 a0001c0002t0002g0333 a0001c0002t0002g0334 a0001c0002t0002g0337 a0001c0002t0002g0338 a0001c0002t0002g0339 a0001c0002t0002g0340 a0001c0002t0002g0341 a0001c0002t0002g0343 a0001c0002t0002g0345 a0001c0002t0002g0347 a0001c0002t0002g0348 a0001c0002t0002g0351 a0001c0002t0002g0352 a0001c0002t0002g0355 a0001c0002t0002g0356 a0001c0002t0002g0357 a0001c0002t0002g0358 a0001c0002t0002g0359 a0001c0002t0002g0360 a0001c0002t0002g0366 a0001c0002t0002g0367 a0001c0002t0004g0327 a0001c0002t0009g0325 a0001c0002t0020g0304 a0001c0002t0023g0336 a0001c0002t0025g0344 a0001c0002t0026g0001 a0001c0004t0001g0005 a0001c0004t0001g0049 a0001c0004t0001g0056 a0001c0004t0001g0057 a0001c0004t0001g0058 a0001c0004t0001g0060 a0001c0004t0001g0061 a0001c0004t0001g0062 a0001c0004t0001g0063 a0001c0004t0001g0064 a0001c0004t0001g0065 a0001c0004t0001g0071 a0001c0004t0001g0132 a0001c0004t0001g0133 a0001c0004t0001g0134 a0001c0004t0001g0135 a0001c0004t0001g0145 a0001c0004t0003g0153 a0001c0004t0012g0055 a0001c0004t0027g0362 a0001c0005t0001g0017 a0001c0005t0001g0019 a0001c0005t0001g0052 a0001c0005t0001g0054 a0001c0005t0001g0066 a0001c0005t0001g0067 a0001c0005t0001g0069 a0001c0005t0001g0070 a0001c0005t0001g0076 a0001c0005t0001g0077 a0001c0005t0001g0078 a0001c0005t0001g0109 a0001c0011t0002g0314 a0001c0011t0002g0324 a0001c0011t0006g0025 a0001c0017t0001g0005 a0001c0017t0001g0059 a0001c0029t0002g0349 a0001c0032t0002g0353 a0001c0033t0002g0004 a0001c0046t0014g0028 a0002c0003t0004g0224 a0002c0026t0002g0023 a0002c0049t0004g0223 a0003c0006t0001g0089 a0003c0006t0001g0102 a0003c0006t0002g0261 a0004c0008t0017g0354 a0004c0036t0002g0346 a0007c0012t0001g0009 a0007c0012t0001g0115 a0007c0012t0001g0131 a0010c0015t0002g0001 a0010c0015t0002g0335 a0011c0043t0001g0130 a0011c0044t0031g0156 a0015c0022t0001g0002 a0017c0051t0001g0104 a0020c0039t0005g0111 a0023c0042t0001g0046 a0026c0038t0002g0350 a0027c0047t0001g0053	245	434	0.5645	-39	c.967 others(54): Show c.967+407_967+445delGGGGGTCCCCGGTCCCGCCTCCTAGGGCTC CTGGACGGA		SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	936303	GGGGGTCC others(32): Show GGGGGTCCCCGGTCCCGCCTCCTAGGGCTCCTGGACGGAA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0028 a0001c0011t0028	a0001c0011t0028g0316 a0001c0011t0028g0316	1	434	0.0023	-39	c.967 others(54): Show c.967+485_967+523delAGGGGTCCCCGGTCCCGCCTCCTAGGGCTC CTGGACGGA		SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
SARDH_chr9_133658560_133743352	133668471	CCCCTCGC others(32): Show CCCCTCGCCCTCCCTCTCCCCTCACCCTCACCCTCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0003 a0002c0020t0003	a0002c0020t0003g0207 a0002c0020t0003g0207	1	262	0.0038	-39	c.249 others(58): Show c.2496-1640_2496-1602delAGAGGGAGGGTGAGGGTGAGGGGAGA GGGAGGGCGAGGG		SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20						chr9	TogoVar
SBK2_chr19_55523611_55542133	55537301	CCAGGAGT others(32): Show CCAGGAGTCCAGGCCCCAGCCCCTCCTCCTCCCTCAGACT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp1 NA18982.hp2 NA18975.hp1 NA18982.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0054 a0003c0005t0005g0295 a0003c0005t0005g0054 a0003c0005t0005g0295	2	434	0.0046	-39	c.-28 others(48): Show c.-289_-251delAGTCTGAGGGAGGAGGAGGGGCTGGGGCCTGGACTC CTG		SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding					169		chr19	TogoVar
SBK3_chr19_55535656_55550543	55537301	CCAGGAGT others(32): Show CCAGGAGTCCAGGCCCCAGCCCCTCCTCCTCCCTCAGACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA18982.hp1 NA18975.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	2	438	0.0046	-39	c.35 others(50): Show c.3506_*3544delAGTCTGAGGGAGGAGGAGGGGCTGGGGCCTGGAC TCCTG		SBK3	ENSG00000231274.5	transcript	ENST00000612221.1	protein_coding					3354		chr19	TogoVar
SCGB1C1_chr11_188078_199575	191859	TAACCCCT others(32): Show TAACCCCTAACCCTAACCCTAACCCTAACCCCTACCCCTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	354	0.0028	-39	c.-12 others(50): Show c.-1240_-1202delAACCCCTAACCCTAACCCTAACCCTAACCCCTAC CCCTA		SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding					1218		chr11	TogoVar
SCGB1C1_chr11_188078_199575	191861	ACCCCTAA others(32): Show ACCCCTAACCCTAACCCTAACCCTAACCCCTACCCCTAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	354	0.0028	-39	c.-12 others(50): Show c.-1238_-1200delCCCCTAACCCTAACCCTAACCCTAACCCCTACCC CTAAC		SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding					1216		chr11	TogoVar
SCLY_chr2_238056001_238104413	238096412	AATGCCTT others(32): Show AATGCCTTCTGGCTTAATAGAACTCCCACGTGTCTCTACC	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0072 a0002c0002t0072	a0002c0002t0072g0187 a0002c0002t0072g0187	1	392	0.0026	-39	c.110 others(56): Show c.1109-386_1109-348delGCCTTCTGGCTTAATAGAACTCCCACGT GTCTCTACCAT		SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
SCML1_chrX_17732493_17759985	17738609	GTGTGTTC others(32): Show GTGTGTTCCTCAAAGTGGTCCCGGTGGGAGTGGCGCCTCA	G G	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0026 a0001c0001t0011g0026	1	281	0.0036	-39	c.-11 others(56): Show c.-117+931_-117+969delGTGTTCCTCAAAGTGGTCCCGGTGGGAG TGGCGCCTCAT		SCML1	ENSG00000047634.15	transcript	ENST00000380041.8	protein_coding	1/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
SCNN1B_chr16_23297302_23386294	23377751	TTTCTTTC others(32): Show TTTCTTTCCTTCCTTCCTCCTTTCTTCCTCCCTCCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00738.hp1 others(42): Show HG00099.hp2 HG00323.hp1 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp2 HG01346.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02129.hp1 HG02258.hp1 HG02451.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02698.hp1 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03471.hp1 HG03516.hp2 HG03688.hp1 HG03831.hp1 HG04115.hp1 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA18949.hp2 NA18952.hp1 NA18955.hp2 NA18961.hp2 NA18965.hp2 NA18971.hp2 NA18977.hp2 NA19070.hp1 NA19074.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0016 a0001c0001t0001g0063 a0001c0001t0001g0084 others(42): Show a0001c0001t0001g0016 a0001c0001t0001g0063 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0119 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0158 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0194 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0268 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0006g0305 a0001c0002t0001g0048 a0001c0002t0001g0185 a0001c0002t0001g0198 a0001c0002t0001g0202 a0001c0003t0001g0293	45	306	0.1471	-39	c.140 others(56): Show c.1404+383_1404+421delCCTTTCTTCCTCCCTCCCTTCCTTCTTT CCTTCCTTCCT		SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1289707	TCCCGTGT others(32): Show TCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC	T T	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0089 a0002c0002t0001g0089	1	290	0.0035	-39	c.166 others(56): Show c.1663-560_1663-522delGTGTCCCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCYGR8_chr2_227740894_227751220	227745939	TGCAGTGG others(32): Show TGCAGTGGTGGCTGTGGTGGTGGCTGCGGTGGTGGCTGCG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00423.hp2 HG00735.hp1 HG00738.hp2 others(17): Show HG00423.hp2 HG00735.hp1 HG00738.hp2 HG01106.hp1 HG01361.hp2 HG01928.hp2 HG02004.hp2 HG02155.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp1 NA18939.hp1 NA18946.hp2 NA18951.hp2 NA18993.hp1 NA19005.hp1 NA19055.hp1 NA19065.hp1 NA19085.hp1 NA19091.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0000 a0004c0004t0000	a0004c0004t0000g0000 a0004c0004t0000g0000	20	457	0.0438	-39	c.49_ others(44): Show c.49_87delAGTGGTGGCTGTGGTGGTGGCTGCGGTGGTGGCTGCGGC	p.Ser others(11): Show p.Ser17_Gly29del	SCYGR8	ENSG00000284635.2	transcript	ENST00000641981.2	protein_coding	1/1	49/327	49/327	17/108		INFO_REALIGN_3_PRIME	chr2	TogoVar
SDC1_chr2_20195797_20230130	20224380	GTCTGGTT others(32): Show GTCTGGTTTGAATTAGGGTCTGCAGGGGGGGCGTTGTGGC	G G	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0308 a0001c0001t0009g0308	1	412	0.0024	-39	c.66+ others(52): Show c.66+383_66+421delGCCACAACGCCCCCCCTGCAGACCCTAATTCA AACCAGA		SDC1	ENSG00000115884.11	transcript	ENST00000254351.9	protein_coding	1/4						chr2	TogoVar
SDCCAG8_chr1_243251041_243505091	243391916	CAGTAGCT others(32): Show CAGTAGCTCATCTGAAGTGTGGCTCACCAGGCCTTTGCCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02622.hp2 HG02895.hp2 others(4): Show HG01243.hp2 HG02622.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG02976.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 others(4): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0002g0077	7	189	0.0370	-39	c.161 others(60): Show c.1616+13054_1616+13092delAGTAGCTCATCTGAAGTGTGGCTC ACCAGGCCTTTGCCT		SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	13/17						chr1	TogoVar
SDHD_chr11_112081873_112100794	112082330	GTGTTAAA others(32): Show GTGTTAAAGTATACATTAAAGTGCTTATTTAAAATTCAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02258.hp2 HG02723.hp1 others(3): Show HG02257.hp2 HG02258.hp2 HG02723.hp1 HG02976.hp2 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	6	388	0.0155	-39	c.-45 others(50): Show c.-4577_-4539delTGTTAAAGTATACATTAAAGTGCTTATTTAAAAT TCAGA		SDHD	ENSG00000204370.13	transcript	ENST00000375549.8	protein_coding					4542		chr11	TogoVar
SEC14L1_chr17_77135969_77222101	77215827	AGTAGGTA others(32): Show AGTAGGTAGGGCTAGTAGGTAGGGTTAGTAGGTAGGGTTC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp1 HG00738.hp2 HG01109.hp2 others(3): Show HG00642.hp1 HG00738.hp2 HG01109.hp2 HG01167.hp1 HG01358.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0006 a0001c0001t0010g0114 a0001c0001t0010g0120 others(2): Show a0001c0001t0010g0006 a0001c0001t0010g0114 a0001c0001t0010g0120 a0001c0001t0010g0121 a0001c0001t0010g0122	6	430	0.0140	-39	c.18 others(50): Show c.1815_*1853delCTAGTAGGTAGGGTTAGTAGGTAGGGTTCGTAGG TAGGG		SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	17/17				1815	INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC14L1_chr17_77135969_77222101	77216160	TTCGTAGG others(32): Show TTCGTAGGTAGGGCTAGTAGGTAGGGTTAGTAGGTAGGGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00438.hp2 others(93): Show HG00099.hp1 HG00323.hp2 HG00438.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp2 HG01516.hp2 HG01934.hp1 HG01978.hp1 HG02055.hp2 HG02135.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03516.hp2 HG03579.hp2 HG03831.hp2 HG03927.hp2 NA18522.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18944.hp1 NA18946.hp1 NA18950.hp2 NA18954.hp1 NA18956.hp1 NA18961.hp1 NA18962.hp2 NA18965.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp2 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19079.hp2 NA19080.hp2 NA19083.hp2 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0004 others(1): Show a0001c0001 a0001c0003 a0002c0004 a0003c0007	a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 others(8): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0025 a0001c0001t0050 a0001c0001t0065 a0001c0001t0074 a0001c0003t0023 a0002c0004t0046 a0003c0007t0007	a0001c0001t0003g0007 a0001c0001t0003g0021 a0001c0001t0003g0106 others(91): Show a0001c0001t0003g0007 a0001c0001t0003g0021 a0001c0001t0003g0106 a0001c0001t0003g0110 a0001c0001t0003g0113 a0001c0001t0003g0115 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0130 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0158 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0167 a0001c0001t0003g0169 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0226 a0001c0001t0007g0019 a0001c0001t0007g0024 a0001c0001t0007g0037 a0001c0001t0007g0038 a0001c0001t0007g0040 a0001c0001t0007g0041 a0001c0001t0007g0042 a0001c0001t0007g0043 a0001c0001t0007g0044 a0001c0001t0007g0047 a0001c0001t0007g0129 a0001c0001t0007g0132 a0001c0001t0007g0148 a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 a0001c0001t0007g0156 a0001c0001t0007g0157 a0001c0001t0008g0393 a0001c0001t0008g0397 a0001c0001t0008g0398 a0001c0001t0008g0399 a0001c0001t0008g0400 a0001c0001t0008g0401 a0001c0001t0008g0402 a0001c0001t0008g0403 a0001c0001t0008g0404 a0001c0001t0008g0405 a0001c0001t0008g0406 a0001c0001t0008g0407 a0001c0001t0008g0408 a0001c0001t0008g0409 a0001c0001t0008g0410 a0001c0001t0008g0411 a0001c0001t0010g0006 a0001c0001t0010g0114 a0001c0001t0010g0120 a0001c0001t0010g0121 a0001c0001t0010g0122 a0001c0001t0025g0199 a0001c0001t0025g0392 a0001c0001t0050g0395 a0001c0001t0065g0045 a0001c0001t0074g0192 a0001c0003t0023g0030 a0001c0003t0023g0267 a0002c0004t0046g0186 a0003c0007t0007g0025	96	430	0.2233	-39	c.21 others(50): Show c.2139_*2177delCGTAGGTAGGGCTAGTAGGTAGGGTTAGTAGGTA GGGCT		SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	17/17				2139	INFO_REALIGN_3_PRIME	chr17	TogoVar
SELENOP_chr5_42794880_42816892	42810973	TATAGTTG others(32): Show TATAGTTGTCAGACAGCTATATAAAAATAATGAAGATAAA	T T	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0040 a0001c0002t0003g0040	1	396	0.0025	-39	c.-14 others(54): Show c.-14+824_-14+862delTTTATCTTCATTATTTTTATATAGCTGTCT GACAACTAT		SELENOP	ENSG00000250722.6	transcript	ENST00000514985.6	protein_coding	1/4					WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS	chr5	TogoVar
SEPTIN9_chr17_77276499_77505593	77350981	GTGTGTGC others(32): Show GTGTGTGCACGTGTGGACCTGTGTGGTGTGTGCCTGCACA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0094 a0002c0002t0001g0094	1	150	0.0067	-39	c.76+ others(56): Show c.76+43817_76+43855delCTGCACATGTGTGCACGTGTGGACCTGT GTGGTGTGTGC		SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77350981	GTGTGTGC others(32): Show GTGTGTGCACGTGTGGACCTGTGTGGTGTGTGCCTGCACA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	158	0.0063	-39	c.22+ others(56): Show c.22+30666_22+30704delCTGCACATGTGTGCACGTGTGGACCTGT GTGGTGTGTGC		SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
SERPINA5_chr14_94576426_94598118	94591209	CTCCACTC others(32): Show CTCCACTCCACTCCTCCACTCCACTCCTCCACTCCACTCA	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0313 a0002c0004t0007g0313	1	464	0.0022	-39	c.103 others(56): Show c.1038+352_1038+390delATCCACTCCACTCCTCCACTCCACTCCT CCACTCCACTC		SERPINA5	ENSG00000188488.14	transcript	ENST00000329597.12	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr14	TogoVar
SERPINB12_chr18_63537369_63574329	63566045	ATTGCTTG others(32): Show ATTGCTTGTGAGGTAGGAATTCATAAAGGCTGGAGAAGCT	A A	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0040 a0002c0002t0040	a0002c0002t0040g0071 a0002c0002t0040g0071	1	402	0.0025	-39	c.873 others(54): Show c.873+434_873+472delTTGCTTGTGAGGTAGGAATTCATAAAGGCT GGAGAAGCT		SERPINB12	ENSG00000166634.7	transcript	ENST00000382768.2	protein_coding	7/7						chr18	TogoVar
SERPINB12_chr18_63537369_63574329	63572177	AGCATCAA others(32): Show AGCATCAAATTTTGTTTTGTACAAAATTTCTGAAGATAGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	402	0.0025	-39	c.51 others(50): Show c.5167_*5205delGCATCAAATTTTGTTTTGTACAAAATTTCTGAAG ATAGC		SERPINB12	ENSG00000166634.7	transcript	ENST00000382768.2	protein_coding					2849		chr18	TogoVar
SERPINB4_chr18_63632259_63649256	63636785	AGATATTC others(32): Show AGATATTCTTCCATCCATCCAGTCAGATAGGTCAGCAACT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	-39	c.89 others(48): Show c.895_*933delAGTTGCTGACCTATCTGACTGGATGGATGGAAGAAT ATC		SERPINB4	ENSG00000206073.11	transcript	ENST00000341074.10	protein_coding					473		chr18	TogoVar
SERPINE1_chr7_101122104_101144247	101143515	GAGAAAGA others(32): Show GAGAAAGAAAGAGAGAAAGAAAGAAGAAAGAAAGAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(19): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00642.hp1 HG01167.hp2 HG01256.hp2 HG01496.hp2 HG01891.hp2 HG02055.hp1 HG02145.hp1 HG02559.hp2 HG02630.hp2 HG02738.hp2 HG03471.hp2 HG03491.hp2 HG03540.hp2 HG03654.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0002c0003t0007	a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0036 others(19): Show a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0049 a0001c0001t0001g0075 a0001c0001t0001g0110 a0001c0001t0001g0158 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0184 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0303 a0001c0001t0006g0057 a0001c0001t0006g0213 a0001c0001t0006g0216 a0001c0001t0007g0151 a0001c0001t0007g0152 a0001c0001t0007g0153 a0002c0003t0007g0353	22	436	0.0505	-39	c.60 others(50): Show c.6074_*6112delAGAAAGAAAGAGAGAAAGAAAGAAGAAAGAAAGA AAGAA		SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding					4269		chr7	TogoVar
SFMBT2_chr10_7153624_7416034	7367273	CTCCTGAT others(32): Show CTCCTGATGTCCTTTCAGCCTTCCTTTCTTACCCTCCAAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00642.hp1 others(83): Show HG00408.hp1 HG00408.hp2 HG00642.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG02055.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03942.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18983.hp1 NA18983.hp2 NA18995.hp2 NA18998.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0010 a0002c0005 a0003c0004 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0028 a0001c0001t0029 a0001c0001t0034 a0001c0001t0036 a0001c0001t0038 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0011 a0001c0002t0012 a0001c0002t0024 a0001c0003t0006 a0001c0003t0025 a0001c0003t0026 a0001c0006t0006 a0001c0010t0027 a0002c0005t0001 a0003c0004t0007 a0005c0009t0005	a0001c0001t0001g0011 a0001c0001t0001g0083 a0001c0001t0001g0103 others(83): Show a0001c0001t0001g0011 a0001c0001t0001g0083 a0001c0001t0001g0103 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0002g0039 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0067 a0001c0001t0002g0084 a0001c0001t0002g0131 a0001c0001t0003g0030 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0081 a0001c0001t0003g0086 a0001c0001t0003g0099 a0001c0001t0003g0115 a0001c0001t0003g0134 a0001c0001t0004g0024 a0001c0001t0004g0053 a0001c0001t0004g0069 a0001c0001t0004g0098 a0001c0001t0004g0121 a0001c0001t0005g0027 a0001c0001t0005g0092 a0001c0001t0005g0109 a0001c0001t0005g0110 a0001c0001t0005g0111 a0001c0001t0007g0055 a0001c0001t0007g0068 a0001c0001t0008g0126 a0001c0001t0008g0132 a0001c0001t0008g0143 a0001c0001t0009g0056 a0001c0001t0009g0089 a0001c0001t0009g0117 a0001c0001t0010g0003 a0001c0001t0010g0045 a0001c0001t0010g0091 a0001c0001t0011g0118 a0001c0001t0011g0119 a0001c0001t0011g0120 a0001c0001t0012g0080 a0001c0001t0013g0004 a0001c0001t0013g0008 a0001c0001t0013g0116 a0001c0001t0014g0054 a0001c0001t0014g0060 a0001c0001t0014g0097 a0001c0001t0015g0135 a0001c0001t0016g0076 a0001c0001t0017g0021 a0001c0001t0017g0048 a0001c0001t0018g0062 a0001c0001t0022g0128 a0001c0001t0028g0107 a0001c0001t0029g0041 a0001c0001t0034g0133 a0001c0001t0036g0019 a0001c0001t0038g0144 a0001c0002t0001g0009 a0001c0002t0001g0036 a0001c0002t0002g0037 a0001c0002t0002g0090 a0001c0002t0002g0094 a0001c0002t0002g0100 a0001c0002t0004g0042 a0001c0002t0011g0015 a0001c0002t0012g0073 a0001c0002t0012g0108 a0001c0002t0024g0072 a0001c0003t0006g0014 a0001c0003t0006g0035 a0001c0003t0025g0034 a0001c0003t0026g0020 a0001c0006t0006g0013 a0001c0010t0027g0026 a0002c0005t0001g0059 a0002c0005t0001g0130 a0003c0004t0007g0025 a0003c0004t0007g0040 a0005c0009t0005g0046	86	144	0.5972	-39	c.436 others(54): Show c.436+337_436+375delATTGGAGGGTAAGAAAGGAAGGCTGAAAGG ACATCAGGA		SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	4/20						chr10	TogoVar
SFRP5_chr10_97761751_97776999	97763007	CCTCCGGC others(32): Show CCTCCGGCCTGGTCGGGTATGTTTCAACACCCCAGAGCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG02615.hp2 others(3): Show HG01884.hp1 HG02258.hp1 HG02615.hp2 HG02976.hp2 HG03209.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	6	380	0.0158	-39	c.44 others(50): Show c.4468_*4506delCTGCTCTGGGGTGTTGAAACATACCCGACCAGGC CGGAG		SFRP5	ENSG00000120057.5	transcript	ENST00000266066.4	protein_coding					3743		chr10	TogoVar
SFSWAP_chr12_131706090_131804738	131795964	CGGGAGGG others(32): Show CGGGAGGGGAGGGATAGGGGAGGGGAGGGGAGAGGGGGAG	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	318	0.0031	-39	c.253 others(58): Show c.2535-1201_2535-1163delATAGGGGAGGGGAGGGGAGAGGGGGA GGGGAGGGGAGGG		SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	15/17					INFO_REALIGN_3_PRIME	chr12	TogoVar
SGIP1_chr1_66529153_66756139	66660119	GGAAAGAA others(32): Show GGAAAGAAAGAAAGAAAGAAAGAAGAGAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0201 a0001c0001t0052g0201	1	302	0.0033	-39	c.460 others(54): Show c.460-370_460-332delGAGAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAA		SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	7/24					INFO_REALIGN_3_PRIME	chr1	TogoVar
SGPP2_chr2_222419543_222567621	222556736	CCCCATCC others(32): Show CCCCATCCACCCTCACTCCTCCCCATTCACCCTCACTCCT	C C	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0171 a0001c0001t0003g0171	1	272	0.0037	-39	c.649 others(56): Show c.649-1607_649-1569delATCCACCCTCACTCCTCCCCATTCACCC TCACTCCTCCC		SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3PXD2B_chr5_172328499_172459525	172439254	AAAAAAAA others(32): Show AAAAAAAAAACAAAAACAAAAACAAAACAAAAAAAAAACC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00597.hp1 others(55): Show HG00140.hp1 HG00323.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00733.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01934.hp2 HG02015.hp1 HG02080.hp2 HG02109.hp2 HG02602.hp2 HG02647.hp2 HG02683.hp1 HG02922.hp2 HG03098.hp1 HG03654.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18941.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18959.hp1 NA18960.hp2 NA18966.hp2 NA18968.hp1 NA18984.hp1 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19060.hp1 NA19068.hp2 NA19079.hp1 NA19088.hp1 NA19090.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0001c0003 a0003c0007 others(1): Show a0001c0001 a0001c0003 a0003c0007 a0008c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(18): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0027 a0001c0001t0028 a0001c0001t0060 a0001c0001t0084 a0001c0001t0085 a0001c0001t0087 a0001c0001t0088 a0001c0001t0090 a0001c0001t0091 a0001c0001t0093 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0003t0015 a0001c0003t0017 a0003c0007t0012 a0008c0009t0003	a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 others(55): Show a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0162 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0224 a0001c0001t0003g0227 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0235 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0245 a0001c0001t0003g0248 a0001c0001t0003g0251 a0001c0001t0003g0253 a0001c0001t0003g0262 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0226 a0001c0001t0004g0229 a0001c0001t0004g0237 a0001c0001t0004g0241 a0001c0001t0004g0242 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0249 a0001c0001t0004g0258 a0001c0001t0027g0244 a0001c0001t0027g0259 a0001c0001t0028g0275 a0001c0001t0028g0278 a0001c0001t0060g0142 a0001c0001t0084g0260 a0001c0001t0085g0243 a0001c0001t0087g0234 a0001c0001t0088g0272 a0001c0001t0090g0254 a0001c0001t0091g0250 a0001c0001t0093g0236 a0001c0001t0095g0274 a0001c0001t0096g0276 a0001c0001t0097g0277 a0001c0001t0098g0279 a0001c0003t0015g0143 a0001c0003t0017g0225 a0001c0003t0017g0228 a0001c0003t0017g0256 a0003c0007t0012g0003 a0003c0007t0012g0004 a0003c0007t0012g0005 a0008c0009t0003g0252 a0008c0009t0003g0257	58	280	0.2071	-39	c.75+ others(56): Show c.75+14985_75+15023delGGTTTTTTTTTTGTTTTGTTTTTGTTTT TGTTTTTTTTT		SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	1/12						chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172439255	AAAAAAAA others(32): Show AAAAAAAAACAAAAACAAAAACAAAACAAAAAAAAAACCC	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03195.hp1 HG03130.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0068 a0001c0002t0006 a0001c0001t0068 a0001c0002t0006	a0001c0001t0068g0019 a0001c0002t0006g0023 a0001c0001t0068g0019 a0001c0002t0006g0023	2	280	0.0071	-39	c.75+ others(56): Show c.75+14984_75+15022delGGGTTTTTTTTTTGTTTTGTTTTTGTTT TTGTTTTTTTT		SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	1/12						chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172439256	AAAAAAAA others(32): Show AAAAAAAACAAAAACAAAAACAAAACAAAAAAAAAACCCC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0015 a0001c0001t0026g0015	1	280	0.0036	-39	c.75+ others(56): Show c.75+14983_75+15021delGGGGTTTTTTTTTTGTTTTGTTTTTGTT TTTGTTTTTTT		SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	1/12						chr5	TogoVar
SH3RF3_chr2_109124205_109509634	109170280	TTCTCTTC others(32): Show TTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTCCTC	T T	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0070 a0001c0005t0070	a0001c0005t0070g0097 a0001c0005t0070g0097	1	172	0.0058	-39	c.573 others(58): Show c.573+40173_573+40211delTCTCTTCTCTTCTCTTCTCTTCTCTT CTCTCCTCTCTCT		SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3RF3_chr2_109124205_109509634	109199471	AATGGAAT others(32): Show AATGGAATGGAATGGAATGGAATGGATGGAATGGAATGGG	A A	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0017 a0001c0005t0017	a0001c0005t0017g0110 a0001c0005t0017g0110	1	172	0.0058	-39	c.573 others(58): Show c.573+69384_573+69422delTGGAATGGAATGGGATGGAATGGAAT GGAATGGAATGGA		SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
SHC2_chr19_411589_466033	451339	TGGCTGTG others(32): Show TGGCTGTGCCGTATTTCAGCGTGTGGATGGCCACGCCGTG	T T	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18989.hp1 NA18939.hp1 NA18989.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	2	212	0.0094	-39	c.468 others(56): Show c.468+9151_468+9189delCACGGCGTGGCCATCCACACGCTGAAAT ACGGCACAGCC		SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12						chr19	TogoVar
SHISAL2A_chr1_52628168_52662065	52638302	GGCCCCTT others(32): Show GGCCCCTTTCTATCCAGGAACCCAGAGTTGTCCCACACAC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00597.hp1 others(171): Show HG00408.hp1 HG00438.hp1 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01123.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18950.hp1 NA18952.hp1 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18978.hp1 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18987.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0020 others(165): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0380 a0001c0001t0001g0381 a0001c0001t0001g0383 a0001c0001t0001g0384 a0001c0001t0001g0385 a0001c0001t0001g0386 a0001c0001t0001g0387 a0001c0001t0001g0388 a0001c0001t0001g0389 a0001c0001t0001g0390 a0001c0001t0001g0391 a0001c0001t0001g0392 a0001c0001t0001g0393 a0001c0001t0001g0394 a0001c0001t0001g0395 a0001c0001t0001g0396 a0001c0001t0001g0397 a0001c0001t0001g0398 a0001c0001t0001g0399 a0001c0001t0001g0400 a0001c0001t0001g0401 a0001c0001t0001g0402 a0001c0001t0001g0403 a0001c0001t0001g0404 a0001c0001t0001g0405 a0001c0001t0001g0406 a0001c0001t0001g0407 a0001c0001t0001g0408 a0001c0001t0001g0415 a0001c0001t0001g0416 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0382 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067	174	444	0.3919	-39	c.183 others(56): Show c.183-4559_183-4521delCCCCTTTCTATCCAGGAACCCAGAGTTG TCCCACACACG		SHISAL2A	ENSG00000182183.15	transcript	ENST00000517870.2	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr1	TogoVar
SHLD3_chr5_65620027_65635928	65632319	CACCTTTT others(32): Show CACCTTTTTATCTGTTTTCAGGGCACCTTTTTCTCTGTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0034	1	406	0.0025	-39	c.19 others(50): Show c.1980_*2018delACCTTTTTATCTGTTTTCAGGGCACCTTTTTCTC TGTTT		SHLD3	ENSG00000253251.3	transcript	ENST00000510585.3	protein_coding					1392		chr5	TogoVar
SIGIRR_chr11_400716_419999	401536	GCCCCGCT others(32): Show GCCCCGCTCACCCCCGGCCCGCTCACCCCCGGCCCCGCTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	242	0.0041	-39	c.43 others(50): Show c.4321_*4359delGAGCGGGGCCGGGGGTGAGCGGGCCGGGGGTGAG CGGGG		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					4179		chr11	TogoVar
SIGIRR_chr11_400716_419999	402249	CGACCCCC others(32): Show CGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	242	0.0041	-39	c.36 others(50): Show c.3608_*3646delCGGGGTCAGTGGAGCCGGGGGTGAGCGGGGCCGG GGGTC		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					3466		chr11	TogoVar
SIGIRR_chr11_400716_419999	402376	ACCCCGGC others(32): Show ACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG03831.hp2 HG00423.hp1 HG03831.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0008 a0001c0003 a0003c0008	a0001c0003t0001 a0003c0008t0001 a0001c0003t0001 a0003c0008t0001	a0001c0003t0001g0027 a0003c0008t0001g0024 a0001c0003t0001g0027 a0003c0008t0001g0024	2	242	0.0083	-39	c.34 others(50): Show c.3481_*3519delGTCGGGGGTGAGCGGGGTCCGGGGTGAGCGGGGC CGGGG		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					3339		chr11	TogoVar
SIGIRR_chr11_400716_419999	412523	GGGGGGGG others(32): Show GGGGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp1 HG01243.hp2 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0025 a0001c0001t0001g0026	2	242	0.0083	-39	c.-15 others(58): Show c.-154+2261_-154+2299delGACTGTATCCAGACATGGTCAGAGCT GGGCACCCCCCCC		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9						chr11	TogoVar
SIGIRR_chr11_400716_419999	412643	GGGGAGGG others(32): Show GGGGAGGGGTGCTCAGCTCTGACCATGTCTGGATACAGTC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18944.hp1 NA18944.hp2 HG00408.hp2 NA18944.hp1 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145	3	242	0.0124	-39	c.-15 others(58): Show c.-154+2141_-154+2179delGACTGTATCCAGACATGGTCAGAGCT GAGCACCCCTCCC		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9						chr11	TogoVar
SIX5_chr19_45759785_45774252	45770204	CCAGCAGC others(32): Show CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02896.hp1 HG02897.hp2 HG01884.hp1 HG02896.hp1 HG02897.hp2	a0002 a0004 a0002 a0004	a0002c0009 a0004c0020 a0002c0009 a0004c0020	a0002c0009t0007 a0004c0020t0018 a0002c0009t0007 a0004c0020t0018	a0002c0009t0007g0017 a0004c0020t0018g0041 a0002c0009t0007g0017 a0004c0020t0018g0041	3	414	0.0073	-39	c.-13 others(50): Show c.-1399_-1361delCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC TGCTG		SIX5	ENSG00000177045.11	transcript	ENST00000317578.7	protein_coding					953		chr19	TogoVar
SKA1_chr18_50370046_50399168	50385994	TCAGAAAG others(32): Show TCAGAAAGTAAAACTCATCTGTAATTCTACCATTAGATAA	T T	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0084 a0003c0003t0004g0084	1	387	0.0026	-39	c.449 others(54): Show c.449+642_449+680delCAGAAAGTAAAACTCATCTGTAATTCTACC ATTAGATAA		SKA1	ENSG00000154839.10	transcript	ENST00000285116.8	protein_coding	5/6						chr18	TogoVar
SKIC3_chr5_95458894_95559977	95492636	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0302	1	352	0.0028	-39	c.380 others(58): Show c.3803-1639_3803-1601delTTTTTTTTTTTTTTTTTTTTTTTCTT TTTTTTTTTTTTT		SKIC3	ENSG00000198677.13	transcript	ENST00000358746.7	protein_coding	36/42						chr5	TogoVar
SKOR1_chr15_67820509_67839582	67827144	GGGGCCCG others(32): Show GGGGCCCGGGAGCCAGCCACTTGCCCCCGGGGGCAGGGGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01081.hp2 HG01255.hp2 HG01496.hp1 others(9): Show HG01081.hp2 HG01255.hp2 HG01496.hp1 HG01943.hp1 HG01975.hp2 HG01993.hp1 HG02300.hp2 NA18943.hp2 NA18969.hp1 NA18981.hp2 NA19076.hp1 NA20805.hp1	a0002 a0010 a0002 a0010	a0002c0004 a0010c0014 a0002c0004 a0010c0014	a0002c0004t0002 a0010c0014t0002 a0002c0004t0002 a0010c0014t0002	a0002c0004t0002g0001 a0002c0004t0002g0046 a0002c0004t0002g0056 others(1): Show a0002c0004t0002g0001 a0002c0004t0002g0046 a0002c0004t0002g0056 a0010c0014t0002g0001	12	428	0.0280	-39	c.132 others(48): Show c.1326_1364delAGCCAGCCACTTGCCCCCGGGGGCAGGGGCGGGCCC GGG	p.Ala others(13): Show p.Ala443_Gly455del	SKOR1	ENSG00000188779.12	transcript	ENST00000380035.3	protein_coding	2/9	1420/3738	1326/2898	442/965		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLA2_chr20_36607318_36651196	36609192	CACGCACA others(32): Show CACGCACACACGCACACACGCACACACGCACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0237 a0002c0002t0004g0237	1	360	0.0028	-39	c.46 others(50): Show c.4635_*4673delTGTGTGTGTGTGCGTGTGTGCGTGTGTGCGTGTG TGCGT		SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding					3125		chr20	TogoVar
SLC10A6_chr4_86818468_86854384	86842835	TTTCTTTC others(32): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA19081.hp2 NA18980.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0041 a0001c0001t0001g0042	2	350	0.0057	-39	c.377 others(56): Show c.377+5865_377+5903delGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAA		SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5						chr4	TogoVar

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