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
SCT_chr11_621309_632181	628902	TTTCTTTC others(24): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	411	0.0024	-31	c.-17 others(42): Show c.-1790_-1760delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding		1722		chr11	TogoVar
SCYL1_chr11_65520083_65543704	65542034	CCACCCTC others(24): Show CCACCCTCCACTCCCCAACTCTGTGCTCAGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01361.hp1 HG01978.hp2 HG01256.hp2 HG01361.hp1 HG01978.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0017 a0002c0005t0001g0017 a0001c0001t0001g0017 a0002c0005t0001g0017	3	278	0.0108	-31	c.34 others(42): Show c.3469_*3499delCACCCTCCACTCCCCAACTCTGTGCTCAGGG	SCYL1	ENSG00000142186.18	transcript	ENST00000270176.10	protein_coding		3331		chr11	TogoVar
SDHAF3_chr7_97112698_97186763	97154149	AATTACAA others(24): Show AATTACAAAGAACCTTCTTAAGGGTGGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp1 HG00609.hp2 others(71): Show HG00423.hp2 HG00609.hp1 HG00609.hp2 HG01099.hp2 HG01123.hp2 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp2 HG02698.hp2 HG02738.hp2 HG03139.hp2 HG03669.hp2 HG03831.hp1 HG04184.hp2 HG04228.hp1 NA18747.hp1 NA18942.hp1 NA18943.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18975.hp1 NA18979.hp1 NA18981.hp1 NA18984.hp1 NA18985.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19006.hp2 NA19011.hp2 NA19062.hp1 NA19063.hp2 NA19066.hp1 NA19074.hp1 NA19075.hp1 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0010 a0001c0001t0001g0314 a0001c0001t0001g0315 others(70): Show a0001c0001t0001g0010 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 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 a0001c0001t0001g0382 a0001c0001t0001g0383 a0001c0001t0001g0384 a0001c0001t0006g0385 a0001c0001t0006g0386	74	402	0.1841	-31	c.175 others(50): Show c.175-26822_175-26792delAACCTTCTTAAGGGTGGGGGAGATTA CAAAG	SDHAF3	ENSG00000196636.8	transcript	ENST00000432641.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDHA_chr5_213320_262082	260171	CCCGTCAG others(24): Show CCCGTCAGAGCATTACCGTGTGAGCTCCGCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01071.hp1 HG01943.hp2 others(8): Show HG00544.hp1 HG01071.hp1 HG01943.hp2 HG02148.hp2 HG03927.hp2 HG04228.hp1 NA18939.hp1 NA18943.hp2 NA18952.hp2 NA19068.hp1 NA19091.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0002 a0001c0001t0005 a0005c0006t0002 a0001c0001t0002 a0001c0001t0005 a0005c0006t0002	a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0018 others(7): Show a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0018 a0001c0001t0002g0051 a0001c0001t0002g0069 a0001c0001t0002g0080 a0001c0001t0002g0085 a0001c0001t0005g0004 a0005c0006t0002g0041 a0005c0006t0002g0065	11	266	0.0414	-31	c.37 others(42): Show c.3752_*3782delCCGTCAGAGCATTACCGTGTGAGCTCCGCCT	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3090		chr5	TogoVar
SDK1_chr7_3296252_4274000	3954417	ACCCTCCC others(24): Show ACCCTCCCCTCCTGCCTCCCCTCTACACCCTC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0003 a0005c0003t0003	a0005c0003t0003g0069 a0005c0003t0003g0069	1	116	0.0086	-31	c.115 others(50): Show c.1150+2523_1150+2553delACCCTCCCCTCCCCTCCTGCCTCCCC TCTAC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	7/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73582191	ACACACCA others(24): Show ACACACCACGCAGGCATCAGCATTTGGGGGCG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00733.hp1 others(54): Show HG00280.hp2 HG00323.hp2 HG00733.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01346.hp1 HG01361.hp1 HG01884.hp2 HG01891.hp1 HG01981.hp2 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03704.hp1 HG03834.hp1 HG04115.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA19240.hp1 NA20905.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0018 a0019 a0027	a0001c0002 a0001c0003 a0001c0005 others(40): Show a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0013 a0001c0018 a0001c0023 a0001c0026 a0001c0033 a0001c0035 a0001c0039 a0001c0043 a0001c0051 a0001c0052 a0001c0053 a0001c0068 a0001c0073 a0001c0084 a0001c0089 a0001c0094 a0001c0111 a0002c0028 a0002c0104 a0003c0017 a0004c0011 a0004c0027 a0004c0066 a0004c0080 a0004c0095 a0005c0012 a0005c0065 a0006c0042 a0007c0019 a0008c0044 a0008c0047 a0008c0069 a0009c0021 a0018c0086 a0019c0081 a0027c0076	a0001c0002t0001 a0001c0002t0010 a0001c0002t0065 others(54): Show a0001c0002t0001 a0001c0002t0010 a0001c0002t0065 a0001c0003t0011 a0001c0003t0020 a0001c0003t0090 a0001c0005t0024 a0001c0005t0048 a0001c0005t0050 a0001c0006t0014 a0001c0006t0020 a0001c0007t0003 a0001c0008t0004 a0001c0008t0030 a0001c0010t0008 a0001c0010t0043 a0001c0013t0013 a0001c0018t0008 a0001c0023t0017 a0001c0026t0022 a0001c0026t0035 a0001c0033t0052 a0001c0035t0056 a0001c0039t0047 a0001c0043t0033 a0001c0051t0046 a0001c0052t0007 a0001c0053t0022 a0001c0068t0007 a0001c0073t0038 a0001c0084t0088 a0001c0089t0055 a0001c0094t0005 a0001c0111t0001 a0002c0028t0060 a0002c0104t0003 a0003c0017t0005 a0003c0017t0084 a0004c0011t0010 a0004c0011t0018 a0004c0027t0024 a0004c0066t0018 a0004c0080t0054 a0004c0095t0037 a0005c0012t0058 a0005c0012t0081 a0005c0065t0013 a0006c0042t0053 a0007c0019t0027 a0007c0019t0075 a0008c0044t0023 a0008c0047t0023 a0008c0069t0102 a0009c0021t0004 a0018c0086t0012 a0019c0081t0001 a0027c0076t0034	a0001c0002t0001g0137 a0001c0002t0010g0181 a0001c0002t0065g0177 others(54): Show a0001c0002t0001g0137 a0001c0002t0010g0181 a0001c0002t0065g0177 a0001c0003t0011g0067 a0001c0003t0020g0155 a0001c0003t0090g0132 a0001c0005t0024g0191 a0001c0005t0048g0145 a0001c0005t0050g0032 a0001c0006t0014g0201 a0001c0006t0020g0202 a0001c0007t0003g0026 a0001c0008t0004g0051 a0001c0008t0030g0103 a0001c0010t0008g0058 a0001c0010t0043g0069 a0001c0013t0013g0195 a0001c0018t0008g0016 a0001c0023t0017g0189 a0001c0026t0022g0115 a0001c0026t0035g0070 a0001c0033t0052g0002 a0001c0035t0056g0065 a0001c0039t0047g0146 a0001c0043t0033g0003 a0001c0051t0046g0060 a0001c0052t0007g0056 a0001c0053t0022g0039 a0001c0068t0007g0117 a0001c0073t0038g0079 a0001c0084t0088g0015 a0001c0089t0055g0175 a0001c0094t0005g0089 a0001c0111t0001g0203 a0002c0028t0060g0018 a0002c0104t0003g0196 a0003c0017t0005g0193 a0003c0017t0084g0149 a0004c0011t0010g0176 a0004c0011t0018g0187 a0004c0027t0024g0033 a0004c0066t0018g0031 a0004c0080t0054g0080 a0004c0095t0037g0061 a0005c0012t0058g0040 a0005c0012t0081g0178 a0005c0065t0013g0066 a0006c0042t0053g0030 a0007c0019t0027g0004 a0007c0019t0075g0017 a0008c0044t0023g0068 a0008c0047t0023g0019 a0008c0069t0102g0116 a0009c0021t0004g0194 a0018c0086t0012g0204 a0019c0081t0001g0186 a0027c0076t0034g0020	57	204	0.2794	-31	c.64+ others(48): Show c.64+61803_64+61833delCGCCCCCAAATGCTGATGCCTGCGTGGT GTG	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44			chr17	TogoVar
SDS_chr12_113387445_113408887	113390219	TATCCATT others(24): Show TATCCATTCATCCATCCACCCATCTGCCAACG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	344	0.0029	-31	c.26 others(42): Show c.2691_*2721delCGTTGGCAGATGGGTGGATGGATGAATGGAT	SDS	ENSG00000135094.11	transcript	ENST00000257549.9	protein_coding		2225		chr12	TogoVar
SEC11A_chr15_84664544_84721139	84700593	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	320	0.0031	-31	c.52- others(46): Show c.52-8980_52-8950delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SEC11A	ENSG00000140612.14	transcript	ENST00000268220.12	protein_coding	1/5			chr15	TogoVar
SEC23IP_chr10_119887730_119949657	119948111	AGGAGGCT others(24): Show AGGAGGCTGAGGTGGGAGGATTGTGTGAGCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	400	0.0025	-31	c.75 others(42): Show c.7547_*7577delGGAGGCTGAGGTGGGAGGATTGTGTGAGCCC	SEC23IP	ENSG00000107651.15	transcript	ENST00000369075.8	protein_coding		3455		chr10	TogoVar
SEC31A_chr4_82813509_82896153	82892076	TCTTCTGT others(24): Show TCTTCTGTAACATTCCATCTGAAGCTTGCAGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	328	0.0031	-31	c.-10 others(41): Show c.-1024_-994delGCTGCAAGCTTCAGATGGAATGTTACAGAAG	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding		924		chr4	TogoVar
SECTM1_chr17_82316024_82338766	82319475	TGTGTGTG others(24): Show TGTGTGTGCAGAGACGGGTGTGCGTGACTCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG02630.hp1 others(1): Show HG02109.hp1 HG02257.hp2 HG02630.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0064 a0001c0001t0001g0083 a0001c0001t0001g0004 a0001c0001t0001g0064 a0001c0001t0001g0083	4	374	0.0107	-31	c.26 others(42): Show c.2655_*2685delGCGAGTCACGCACACCCGTCTCTGCACACAC	SECTM1	ENSG00000141574.8	transcript	ENST00000269389.8	protein_coding		1548		chr17	TogoVar
SEMA3E_chr7_83358238_83654139	83425029	CATTTTGG others(24): Show CATTTTGGGGGTAACTGTCATTGGTAATACGG	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0061 a0003c0009t0061	a0003c0009t0061g0062 a0003c0009t0061g0062	1	226	0.0044	-31	c.457 others(48): Show c.457-6577_457-6547delCCGTATTACCAATGACAGTTACCCCCAA AAT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	4/16			chr7	TogoVar
SEMA5A_chr5_9030033_9551075	9131628	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0044 a0001c0006t0044	a0001c0006t0044g0009 a0001c0006t0044g0009	1	134	0.0075	-31	c.159 others(50): Show c.1599+4845_1599+4875delGTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	13/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9164071	AATTTATA others(24): Show AATTTATATAATTATAAATATATCATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(78): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01123.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02683.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG04115.hp1 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18944.hp1 NA18944.hp2 NA18960.hp2 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18989.hp2 NA18991.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19068.hp1 NA19068.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0023 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(62): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0033 a0001c0001t0046 a0001c0001t0064 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0077 a0001c0001t0078 a0001c0001t0081 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0009 a0001c0002t0022 a0001c0002t0040 a0001c0002t0045 a0001c0002t0047 a0001c0002t0050 a0001c0002t0060 a0001c0002t0063 a0001c0002t0082 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0010 a0001c0003t0051 a0001c0003t0079 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0004t0010 a0001c0004t0069 a0001c0006t0001 a0001c0006t0007 a0001c0006t0014 a0001c0006t0021 a0001c0006t0043 a0001c0006t0058 a0001c0007t0003 a0001c0007t0012 a0001c0007t0016 a0001c0007t0025 a0001c0007t0034 a0001c0008t0001 a0001c0008t0004 a0001c0010t0075 a0001c0011t0073 a0001c0015t0008 a0001c0016t0038 a0001c0017t0074 a0001c0018t0002 a0001c0023t0018 a0005c0012t0029	a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0018 others(78): Show a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0076 a0001c0001t0002g0131 a0001c0001t0003g0029 a0001c0001t0006g0061 a0001c0001t0008g0122 a0001c0001t0011g0028 a0001c0001t0014g0077 a0001c0001t0015g0092 a0001c0001t0015g0093 a0001c0001t0017g0091 a0001c0001t0023g0017 a0001c0001t0024g0025 a0001c0001t0028g0006 a0001c0001t0033g0057 a0001c0001t0046g0023 a0001c0001t0064g0127 a0001c0001t0066g0106 a0001c0001t0067g0128 a0001c0001t0068g0129 a0001c0001t0077g0101 a0001c0001t0078g0109 a0001c0001t0081g0133 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0002g0099 a0001c0002t0004g0026 a0001c0002t0004g0034 a0001c0002t0009g0002 a0001c0002t0009g0003 a0001c0002t0022g0073 a0001c0002t0040g0058 a0001c0002t0045g0040 a0001c0002t0047g0053 a0001c0002t0050g0013 a0001c0002t0060g0085 a0001c0002t0063g0100 a0001c0002t0082g0134 a0001c0003t0001g0027 a0001c0003t0002g0102 a0001c0003t0003g0031 a0001c0003t0010g0048 a0001c0003t0051g0079 a0001c0003t0079g0126 a0001c0004t0001g0020 a0001c0004t0001g0039 a0001c0004t0001g0041 a0001c0004t0002g0120 a0001c0004t0002g0121 a0001c0004t0005g0044 a0001c0004t0005g0050 a0001c0004t0010g0049 a0001c0004t0069g0103 a0001c0006t0001g0024 a0001c0006t0001g0078 a0001c0006t0007g0088 a0001c0006t0014g0060 a0001c0006t0021g0001 a0001c0006t0043g0007 a0001c0006t0058g0083 a0001c0007t0003g0063 a0001c0007t0012g0064 a0001c0007t0016g0095 a0001c0007t0025g0062 a0001c0007t0034g0033 a0001c0008t0001g0046 a0001c0008t0004g0066 a0001c0010t0075g0107 a0001c0011t0073g0119 a0001c0015t0008g0112 a0001c0016t0038g0037 a0001c0017t0074g0105 a0001c0018t0002g0130 a0001c0023t0018g0110 a0005c0012t0029g0055	81	134	0.6045	-31	c.127 others(50): Show c.1274-9407_1274-9377delATTTATATGATATATTTATAATTATA TAAAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	11/22			chr5	TogoVar
SEMA6A_chr5_116438555_116579823	116574012	GGGCTCAC others(24): Show GGGCTCACGGCTGCTCCCCCAGGACCGGGCAA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA19030.hp1 NA19030.hp2 HG02055.hp1 NA19030.hp1 NA19030.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0009 a0001c0001 a0008c0009	a0001c0001t0006 a0001c0001t0059 a0008c0009t0003 a0001c0001t0006 a0001c0001t0059 a0008c0009t0003	a0001c0001t0006g0006 a0001c0001t0059g0005 a0008c0009t0003g0007 a0001c0001t0006g0006 a0001c0001t0059g0005 a0008c0009t0003g0007	3	304	0.0099	-31	c.-39 others(46): Show c.-39+142_-39+172delTTGCCCGGTCCTGGGGGAGCAGCCGTGAGC C	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding	1/18			chr5	TogoVar
SEMG1_chr20_45202033_45214768	45210352	TCCAGAGA others(24): Show TCCAGAGAAATCTAAACCTTCAGGAGAAGAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	-31	c.79 others(40): Show c.797_*827delCCAGAGAAATCTAAACCTTCAGGAGAAGAGG	SEMG1	ENSG00000124233.12	transcript	ENST00000372781.4	protein_coding		585		chr20	TogoVar
SERGEF_chr11_17783048_18018047	17872268	GTTCTATA others(24): Show GTTCTATATCTTGCTCTGGATGGTGTTTTCTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18968.hp1 NA18968.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0002 a0002c0003 others(10): Show a0001c0001 a0001c0002 a0002c0003 a0002c0012 a0003c0006 a0003c0010 a0004c0004 a0005c0005 a0006c0007 a0007c0009 a0008c0011 a0009c0008 a0010c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0003t0002 a0002c0012t0002 a0003c0006t0002 a0003c0010t0001 a0004c0004t0001 a0005c0005t0002 a0006c0007t0001 a0006c0007t0002 a0007c0009t0001 a0008c0011t0001 a0009c0008t0002 a0010c0013t0001	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(215): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0200 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0039 a0001c0002t0001g0086 a0001c0002t0002g0001 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0183 a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0190 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0199 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0002c0003t0001g0006 a0002c0003t0001g0013 a0002c0003t0001g0016 a0002c0003t0001g0020 a0002c0003t0001g0036 a0002c0003t0001g0038 a0002c0003t0001g0046 a0002c0003t0001g0048 a0002c0003t0001g0058 a0002c0003t0001g0075 a0002c0003t0001g0076 a0002c0003t0001g0100 a0002c0003t0001g0117 a0002c0003t0001g0118 a0002c0003t0001g0123 a0002c0003t0002g0142 a0002c0003t0002g0206 a0002c0003t0002g0207 a0002c0003t0002g0208 a0002c0003t0002g0210 a0002c0003t0002g0218 a0002c0003t0002g0222 a0002c0012t0002g0156 a0003c0006t0002g0165 a0003c0006t0002g0178 a0003c0010t0001g0072 a0004c0004t0001g0002 a0004c0004t0001g0003 a0004c0004t0001g0004 a0005c0005t0002g0223 a0005c0005t0002g0224 a0005c0005t0002g0225 a0006c0007t0001g0101 a0006c0007t0002g0147 a0007c0009t0001g0017 a0008c0011t0001g0032 a0009c0008t0002g0136 a0010c0013t0001g0112	219	226	0.9690	-31	c.104 others(50): Show c.1048+5909_1048+5939delAAGAAAACACCATCCAGAGCAAGATA TAGAA	SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding	10/10			chr11	TogoVar
SERINC5_chr5_80133727_80261048	80203706	AAACTTCT others(24): Show AAACTTCTGGAATTTCCTGAGTGACAGAGGTT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03516.hp2 HG03195.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0050 a0001c0001t0025g0051 a0001c0001t0025g0050 a0001c0001t0025g0051	2	286	0.0070	-31	c.28- others(44): Show c.28-684_28-654delAACCTCTGTCACTCAGGAAATTCCAGAAGTT	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	1/11			chr5	TogoVar
SERPINB5_chr18_63471958_63510085	63495331	GACTTTAC others(24): Show GACTTTACCCAGCCTCTACTGTGAGTTAGGGA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01099.hp2 HG01257.hp1 others(10): Show HG00639.hp1 HG01099.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01928.hp2 HG01993.hp1 HG02004.hp2 NA18962.hp1 NA18983.hp1 NA18997.hp2 NA19012.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0182 a0001c0001t0001g0183 others(6): Show a0001c0001t0001g0009 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0194 a0001c0001t0001g0217 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0274	13	410	0.0317	-31	c.567 others(48): Show c.567+2237_567+2267delACTTTACCCAGCCTCTACTGTGAGTTAG GGA	SERPINB5	ENSG00000206075.14	transcript	ENST00000382771.9	protein_coding	5/6			chr18	TogoVar
SERPINB9_chr6_2882270_2908309	2907652	GTGTGTGT others(24): Show GTGTGTGTGCGCTTGAGTACGTGTGTCGAGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0132 a0001c0001t0132	a0001c0001t0132g0128 a0001c0001t0132g0128	1	462	0.0022	-31	c.-44 others(42): Show c.-4493_-4463delACCTCGACACACGTACTCAAGCGCACACACA	SERPINB9	ENSG00000170542.6	transcript	ENST00000380698.5	protein_coding		4344		chr6	TogoVar
SERPINB9_chr6_2882270_2908309	2907749	GTGTGTGT others(24): Show GTGTGTGTGTGCTCGAGTACGTGTGTCGAGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02965.hp2 NA20805.hp1 HG02572.hp2 HG02965.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0040 a0001c0001t0125 a0001c0001t0031 a0001c0001t0040 a0001c0001t0125	a0001c0001t0031g0235 a0001c0001t0040g0115 a0001c0001t0125g0269 a0001c0001t0031g0235 a0001c0001t0040g0115 a0001c0001t0125g0269	3	462	0.0065	-31	c.-45 others(42): Show c.-4590_-4560delACCTCGACACACGTACTCGAGCACACACACA	SERPINB9	ENSG00000170542.6	transcript	ENST00000380698.5	protein_coding		4441		chr6	TogoVar
SERPINE1_chr7_101122104_101144247	101143515	GAGAAAGA others(24): Show GAGAAAGAAAGAGAGAAAGAAAGAAGAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01074.hp1 HG01074.hp2 others(13): Show HG00639.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01256.hp1 HG02523.hp2 HG02602.hp1 HG02647.hp1 HG03516.hp2 NA19030.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0004t0009	a0001c0001t0001g0008 a0001c0001t0001g0077 a0001c0001t0001g0117 others(10): Show a0001c0001t0001g0008 a0001c0001t0001g0077 a0001c0001t0001g0117 a0001c0001t0001g0140 a0001c0001t0001g0154 a0001c0001t0001g0167 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0006g0217 a0001c0001t0008g0024 a0001c0001t0008g0115 a0001c0004t0009g0067	16	436	0.0367	-31	c.60 others(42): Show c.6074_*6104delAGAAAGAAAGAGAGAAAGAAAGAAGAAAGAA	SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding		4269		chr7	TogoVar
SERPINE1_chr7_101122104_101144247	101143527	GAGAAAGA others(24): Show GAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG03239.hp2 NA18951.hp1 others(3): Show HG01361.hp1 HG03239.hp2 NA18951.hp1 NA18953.hp1 NA18963.hp1 NA19003.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0002 a0003c0002t0002 a0001c0001t0002 a0003c0002t0002	a0001c0001t0002g0114 a0003c0002t0002g0046 a0003c0002t0002g0269 others(3): Show a0001c0001t0002g0114 a0003c0002t0002g0046 a0003c0002t0002g0269 a0003c0002t0002g0273 a0003c0002t0002g0274 a0003c0002t0002g0283	6	436	0.0138	-31	c.60 others(42): Show c.6086_*6116delAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAA	SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding		4281		chr7	TogoVar
SERPINE2_chr2_223970045_224044286	223998750	GCTATGAG others(24): Show GCTATGAGTAGCAAGAAACTAAGTCTTCTGTT	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02056.hp1 HG00558.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0112 a0001c0001t0001g0081 a0001c0001t0001g0112	2	374	0.0054	-31	c.260 others(46): Show c.260-439_260-409delAACAGAAGACTTAGTTTCTTGCTACTCATA G	SERPINE2	ENSG00000135919.14	transcript	ENST00000409304.6	protein_coding	2/8			chr2	TogoVar
SEZ6L2_chr16_29866159_29904550	29903247	TCGGGAGG others(24): Show TCGGGAGGCCGAGGCAGGAGAATCACTTGAAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0116 a0001c0004t0011g0116	1	308	0.0033	-31	c.-42 others(42): Show c.-4259_-4229delGTTCAAGTGATTCTCCTGCCTCGGCCTCCCG	SEZ6L2	ENSG00000174938.15	transcript	ENST00000617533.5	protein_coding		3698		chr16	TogoVar
SEZ6L_chr22_26164462_26388596	26304361	AAAAGAAA others(24): Show AAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0015 a0001c0006t0007g0015	1	240	0.0042	-31	c.134 others(50): Show c.1349-1607_1349-1577delGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFMBT2_chr10_7153624_7416034	7228713	TTCTTTCT others(24): Show TTCTTTCTTTCTTTCTTTCTTTCCTTTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0041 a0001c0001t0029g0041	1	144	0.0069	-31	c.112 others(48): Show c.1121-807_1121-777delGAGAGAAAGGAAAGAAAGAAAGAAAGAA AGA	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	9/20			chr10	TogoVar
SFXN1_chr5_175473560_175534742	175524114	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0225 a0001c0002t0012g0225	1	372	0.0027	-31	c.872 others(48): Show c.872+1694_872+1724delAAAAAAAAAAATATATATATATATATAT ATA	SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SFXN1_chr5_175473560_175534742	175524116	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01167.hp2 HG01243.hp2 others(31): Show HG00099.hp1 HG01167.hp2 HG01243.hp2 HG01261.hp2 HG01928.hp1 HG02015.hp1 HG02055.hp2 HG02074.hp1 HG02129.hp1 HG02145.hp2 HG02273.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02735.hp1 HG02965.hp1 HG03195.hp1 HG03209.hp1 HG03490.hp2 HG03540.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03942.hp2 HG04204.hp1 NA18954.hp1 NA18957.hp1 NA18965.hp1 NA19002.hp1 NA19055.hp1 NA19057.hp1 NA19240.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0002t0006 others(1): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0006 a0001c0002t0012	a0001c0001t0002g0164 a0001c0002t0002g0004 a0001c0002t0002g0053 others(30): Show a0001c0001t0002g0164 a0001c0002t0002g0004 a0001c0002t0002g0053 a0001c0002t0002g0064 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0137 a0001c0002t0002g0180 a0001c0002t0002g0199 a0001c0002t0002g0210 a0001c0002t0002g0211 a0001c0002t0002g0226 a0001c0002t0002g0240 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0254 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0289 a0001c0002t0002g0292 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0352 a0001c0002t0002g0361 a0001c0002t0002g0365 a0001c0002t0006g0121 a0001c0002t0006g0209 a0001c0002t0006g0286 a0001c0002t0006g0288 a0001c0002t0006g0330 a0001c0002t0012g0213 a0001c0002t0012g0357	34	372	0.0914	-31	c.872 others(48): Show c.872+1696_872+1726delAAAAAAAAATATATATATATATATATAT ATA	SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SFXN1_chr5_175473560_175534742	175524118	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00621.hp1 others(45): Show HG00423.hp1 HG00597.hp1 HG00621.hp1 HG00738.hp1 HG01168.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01515.hp1 HG01993.hp1 HG02080.hp1 HG02083.hp2 HG02155.hp2 HG02257.hp2 HG02602.hp1 HG02683.hp2 HG02698.hp2 HG03017.hp2 HG03139.hp2 HG03239.hp1 HG04115.hp1 HG04228.hp1 NA18612.hp1 NA18939.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18955.hp2 NA18960.hp1 NA18963.hp2 NA18966.hp2 NA18969.hp2 NA18984.hp1 NA18991.hp2 NA18998.hp1 NA19000.hp1 NA19009.hp2 NA19043.hp2 NA19065.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19078.hp1 NA19082.hp2 NA19091.hp2 NA21309.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0003c0008 others(1): Show a0001c0001 a0001c0002 a0003c0008 a0005c0009	a0001c0001t0014 a0001c0002t0002 a0001c0002t0006 others(11): Show a0001c0001t0014 a0001c0002t0002 a0001c0002t0006 a0001c0002t0011 a0001c0002t0012 a0001c0002t0021 a0001c0002t0022 a0001c0002t0029 a0001c0002t0032 a0001c0002t0035 a0001c0002t0036 a0001c0002t0037 a0003c0008t0022 a0005c0009t0033	a0001c0001t0014g0183 a0001c0001t0014g0184 a0001c0001t0014g0185 others(42): Show a0001c0001t0014g0183 a0001c0001t0014g0184 a0001c0001t0014g0185 a0001c0001t0014g0186 a0001c0001t0014g0197 a0001c0002t0002g0005 a0001c0002t0002g0007 a0001c0002t0002g0061 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0224 a0001c0002t0002g0228 a0001c0002t0002g0238 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0290 a0001c0002t0002g0293 a0001c0002t0002g0329 a0001c0002t0002g0331 a0001c0002t0002g0333 a0001c0002t0002g0335 a0001c0002t0002g0336 a0001c0002t0002g0347 a0001c0002t0002g0348 a0001c0002t0002g0349 a0001c0002t0002g0350 a0001c0002t0002g0363 a0001c0002t0006g0212 a0001c0002t0011g0002 a0001c0002t0011g0201 a0001c0002t0011g0256 a0001c0002t0011g0257 a0001c0002t0012g0229 a0001c0002t0012g0332 a0001c0002t0021g0261 a0001c0002t0021g0262 a0001c0002t0022g0287 a0001c0002t0029g0334 a0001c0002t0032g0167 a0001c0002t0035g0344 a0001c0002t0036g0270 a0001c0002t0037g0346 a0003c0008t0022g0205 a0005c0009t0033g0364	48	372	0.1290	-31	c.872 others(48): Show c.872+1698_872+1728delAAAAAAATATATATATATATATATATAT ATA	SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SFXN1_chr5_175473560_175534742	175524120	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0060 a0001c0002t0002g0060	1	372	0.0027	-31	c.872 others(48): Show c.872+1700_872+1730delAAAAATATATATATATATATATATATAT ATA	SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGIP1_chr1_66529153_66756139	66660119	GGAAAGAA others(24): Show GGAAAGAAAGAAAGAAAGAAAGAAGAGAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG03209.hp1 others(3): Show HG01515.hp2 HG01517.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp2 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0027 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0027 a0001c0004t0001 a0002c0002t0001	a0001c0001t0001g0163 a0001c0001t0001g0203 a0001c0001t0027g0090 others(3): Show a0001c0001t0001g0163 a0001c0001t0001g0203 a0001c0001t0027g0090 a0001c0001t0027g0091 a0001c0004t0001g0093 a0002c0002t0001g0252	6	302	0.0199	-31	c.460 others(46): Show c.460-370_460-340delGAGAGAAAGAAAGAAAGAAAGAAAGAAAGA A	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGK1_chr6_134164256_134323112	134206359	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19078.hp2 HG02976.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0218 a0001c0001t0001g0139 a0001c0001t0001g0218	2	250	0.0080	-31	c.361 others(46): Show c.361+966_361+996delAAAAAAATATATATATATATATATATATAT A	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	3/13			chr6	TogoVar
SGK1_chr6_134164256_134323112	134206361	ATATATAT others(24): Show ATATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0143 a0001c0002t0001g0143	1	250	0.0040	-31	c.361 others(46): Show c.361+964_361+994delAAAAAAAAATATATATATATATATATATAT A	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	3/13			chr6	TogoVar
SGK1_chr6_134164256_134323112	134206363	ATATATAT others(24): Show ATATATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03492.hp2 NA19030.hp1 HG03492.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0133 a0001c0002t0002g0202 a0001c0001t0002g0133 a0001c0002t0002g0202	2	250	0.0080	-31	c.361 others(46): Show c.361+962_361+992delAAAAAAAAAAATATATATATATATATATAT A	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	3/13			chr6	TogoVar
SGK1_chr6_134164256_134323112	134314167	AATCCAAA others(24): Show AATCCAAAGGATTTTGTAGAACTAGCATCCGG	A A	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02015.hp1 HG02071.hp2 others(5): Show HG01993.hp1 HG02015.hp1 HG02071.hp2 HG02135.hp2 HG02523.hp1 NA18977.hp2 NA18979.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0014 a0001c0002t0001 a0001c0001t0001 a0001c0001t0014 a0001c0002t0001	a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 others(5): Show a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0067 a0001c0001t0014g0250 a0001c0002t0001g0043	8	250	0.0320	-31	c.69+ others(46): Show c.69+3194_69+3224delCCGGATGCTAGTTCTACAAAATCCTTTGGA T	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	1/13			chr6	TogoVar
SH2D1A_chrX_124341563_124378160	124350370	AATATATA others(24): Show AATATATAATATATAAATATATATTATATACT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01070.hp2 HG01123.hp2 others(20): Show HG00438.hp2 HG01070.hp2 HG01123.hp2 HG01361.hp1 HG01516.hp1 HG02129.hp1 HG02155.hp2 HG03098.hp1 HG04228.hp1 NA18944.hp1 NA18946.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18978.hp1 NA18997.hp1 NA19005.hp1 NA19009.hp1 NA19058.hp1 NA19066.hp1 NA19081.hp1 NA19085.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0003c0004t0008	a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0141 others(18): Show a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0237 a0001c0001t0003g0154 a0003c0004t0008g0222	23	318	0.0723	-31	c.137 others(48): Show c.137+3731_137+3761delATATATATTATATACTATATATAATATA TAA	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
SH3GLB2_chr9_129002036_129033331	129032569	GTGGCAAA others(24): Show GTGGCAAAGCAAGGAGCCTACCGAGCTGATAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0351 a0001c0001t0029g0351	1	436	0.0023	-31	c.-44 others(42): Show c.-4446_-4416delTTATCAGCTCGGTAGGCTCCTTGCTTTGCCA	SH3GLB2	ENSG00000148341.18	transcript	ENST00000372564.8	protein_coding		4239		chr9	TogoVar
SH3KBP1_chrX_19528977_19892600	19774655	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02895.hp1 HG02897.hp2 HG02293.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0011g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0011g0045	3	204	0.0147	-31	c.163 others(50): Show c.163-28245_163-28215delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	2/17			chrX	TogoVar
SH3RF2_chr5_145931578_146068292	146064674	GAAAGAAA others(24): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02630.hp1 HG02109.hp2 HG02630.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0002 a0005c0004t0002	a0005c0004t0002g0204 a0005c0004t0002g0205 a0005c0004t0002g0204 a0005c0004t0002g0205	2	272	0.0074	-31	c.19 others(42): Show c.1974_*2004delAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding		1383		chr5	TogoVar
SH3RF2_chr5_145931578_146068292	146064714	GAAAGAAA others(24): Show GAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	272	0.0037	-31	c.20 others(42): Show c.2014_*2044delAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAA	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding		1423		chr5	TogoVar
SH3TC1_chr4_8194290_8246103	8233979	CATCCATC others(24): Show CATCCATCCATCATCCATCCATCCTTCCATTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(85): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00544.hp1 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01361.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02129.hp2 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG03130.hp1 HG03139.hp1 HG03491.hp1 HG03516.hp2 HG03654.hp1 HG03710.hp2 HG04115.hp1 NA18747.hp2 NA18942.hp1 NA18943.hp1 NA18952.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18985.hp2 NA18998.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19055.hp1 NA19057.hp1 NA19064.hp1 NA19067.hp1 NA19070.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19082.hp1 NA19085.hp1 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20752.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0012 others(11): Show a0001 a0002 a0012 a0018 a0019 a0020 a0026 a0027 a0028 a0030 a0033 a0035 a0041 a0043	a0001c0008 a0001c0009 a0002c0003 others(19): Show a0001c0008 a0001c0009 a0002c0003 a0002c0005 a0002c0012 a0002c0014 a0002c0039 a0002c0050 a0002c0074 a0002c0080 a0012c0030 a0018c0043 a0019c0069 a0020c0068 a0026c0049 a0027c0059 a0028c0079 a0030c0047 a0033c0077 a0035c0081 a0041c0042 a0043c0040	a0001c0008t0001 a0001c0008t0002 a0001c0009t0002 others(23): Show a0001c0008t0001 a0001c0008t0002 a0001c0009t0002 a0001c0009t0005 a0002c0003t0001 a0002c0003t0002 a0002c0005t0001 a0002c0005t0002 a0002c0012t0002 a0002c0014t0002 a0002c0039t0002 a0002c0050t0002 a0002c0074t0002 a0002c0080t0001 a0012c0030t0002 a0018c0043t0002 a0019c0069t0001 a0020c0068t0001 a0026c0049t0002 a0027c0059t0006 a0028c0079t0001 a0030c0047t0002 a0033c0077t0002 a0035c0081t0002 a0041c0042t0002 a0043c0040t0002	a0001c0008t0001g0112 a0001c0008t0001g0201 a0001c0008t0002g0094 others(84): Show a0001c0008t0001g0112 a0001c0008t0001g0201 a0001c0008t0002g0094 a0001c0008t0002g0095 a0001c0008t0002g0115 a0001c0008t0002g0116 a0001c0008t0002g0119 a0001c0009t0002g0111 a0001c0009t0002g0144 a0001c0009t0002g0147 a0001c0009t0002g0148 a0001c0009t0002g0274 a0001c0009t0005g0146 a0002c0003t0001g0052 a0002c0003t0001g0066 a0002c0003t0001g0130 a0002c0003t0001g0151 a0002c0003t0001g0241 a0002c0003t0001g0248 a0002c0003t0001g0256 a0002c0003t0001g0263 a0002c0003t0002g0009 a0002c0003t0002g0040 a0002c0003t0002g0046 a0002c0003t0002g0062 a0002c0003t0002g0077 a0002c0003t0002g0140 a0002c0003t0002g0152 a0002c0003t0002g0257 a0002c0003t0002g0258 a0002c0003t0002g0261 a0002c0003t0002g0262 a0002c0003t0002g0269 a0002c0003t0002g0280 a0002c0003t0002g0282 a0002c0003t0002g0284 a0002c0003t0002g0285 a0002c0003t0002g0289 a0002c0003t0002g0292 a0002c0003t0002g0299 a0002c0003t0002g0302 a0002c0003t0002g0303 a0002c0003t0002g0308 a0002c0003t0002g0328 a0002c0003t0002g0352 a0002c0005t0001g0166 a0002c0005t0001g0170 a0002c0005t0001g0205 a0002c0005t0002g0026 a0002c0005t0002g0027 a0002c0005t0002g0158 a0002c0005t0002g0160 a0002c0005t0002g0163 a0002c0005t0002g0172 a0002c0005t0002g0177 a0002c0005t0002g0185 a0002c0005t0002g0189 a0002c0005t0002g0190 a0002c0005t0002g0194 a0002c0005t0002g0208 a0002c0005t0002g0209 a0002c0005t0002g0210 a0002c0005t0002g0218 a0002c0005t0002g0362 a0002c0012t0002g0073 a0002c0012t0002g0315 a0002c0012t0002g0321 a0002c0014t0002g0207 a0002c0014t0002g0226 a0002c0014t0002g0332 a0002c0039t0002g0187 a0002c0039t0002g0188 a0002c0050t0002g0233 a0002c0074t0002g0211 a0002c0080t0001g0363 a0012c0030t0002g0005 a0018c0043t0002g0142 a0019c0069t0001g0223 a0020c0068t0001g0032 a0026c0049t0002g0255 a0027c0059t0006g0260 a0028c0079t0001g0215 a0030c0047t0002g0281 a0033c0077t0002g0325 a0035c0081t0002g0186 a0041c0042t0002g0029 a0043c0040t0002g0326	88	374	0.2353	-31	c.328 others(48): Show c.3282+490_3282+520delTTCCATTTATCCATCCATCATCCATCCA TCC	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3TC1_chr4_8194290_8246103	8234015	ATCCATCA others(24): Show ATCCATCATCCATCCATCCATTCATCCATCAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03579.hp2 NA19043.hp2 others(1): Show HG01891.hp1 HG03579.hp2 NA19043.hp2 NA20300.hp1	a0001 a0007 a0001 a0007	a0001c0038 a0007c0032 a0001c0038 a0007c0032	a0001c0038t0003 a0007c0032t0001 a0007c0032t0002 a0001c0038t0003 a0007c0032t0001 a0007c0032t0002	a0001c0038t0003g0357 a0001c0038t0003g0359 a0007c0032t0001g0013 others(1): Show a0001c0038t0003g0357 a0001c0038t0003g0359 a0007c0032t0001g0013 a0007c0032t0002g0014	4	374	0.0107	-31	c.328 others(48): Show c.3282+505_3282+535delCATCATCCATCCATCCATTCATCCATCA TTC	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHC3_chr9_89000771_89183818	89028471	GATATAGA others(24): Show GATATAGATTATATCTATATAGATATAGATTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(121): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00639.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01175.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG02055.hp1 HG02055.hp2 HG02148.hp1 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18961.hp1 NA18961.hp2 NA18974.hp1 NA18974.hp2 NA18995.hp1 NA18995.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0011 a0001c0003t0045 a0001c0003t0046 a0001c0004t0001 a0001c0004t0010 a0001c0006t0004 a0001c0006t0024 a0001c0007t0003 a0001c0007t0015 a0001c0009t0027	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(116): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0114 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0162 a0001c0001t0001g0170 a0001c0001t0002g0004 a0001c0001t0002g0044 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0103 a0001c0001t0002g0107 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0116 a0001c0001t0002g0121 a0001c0001t0002g0136 a0001c0001t0002g0146 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0003g0045 a0001c0001t0003g0049 a0001c0001t0003g0055 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0090 a0001c0001t0003g0104 a0001c0001t0003g0115 a0001c0001t0003g0120 a0001c0001t0003g0149 a0001c0001t0003g0151 a0001c0001t0004g0038 a0001c0001t0004g0061 a0001c0001t0004g0066 a0001c0001t0004g0069 a0001c0001t0004g0123 a0001c0001t0005g0124 a0001c0001t0005g0145 a0001c0001t0005g0171 a0001c0001t0006g0060 a0001c0001t0007g0150 a0001c0001t0008g0108 a0001c0001t0008g0109 a0001c0001t0008g0132 a0001c0001t0009g0096 a0001c0001t0009g0097 a0001c0001t0009g0161 a0001c0001t0012g0040 a0001c0001t0012g0041 a0001c0001t0013g0093 a0001c0001t0013g0105 a0001c0001t0013g0112 a0001c0001t0014g0025 a0001c0001t0014g0106 a0001c0001t0014g0138 a0001c0001t0016g0098 a0001c0001t0016g0160 a0001c0001t0017g0076 a0001c0001t0018g0046 a0001c0001t0018g0144 a0001c0001t0019g0057 a0001c0001t0020g0152 a0001c0001t0022g0042 a0001c0001t0023g0023 a0001c0001t0026g0172 a0001c0001t0028g0139 a0001c0001t0029g0024 a0001c0001t0030g0122 a0001c0001t0035g0092 a0001c0001t0036g0133 a0001c0001t0037g0113 a0001c0001t0041g0174 a0001c0001t0042g0079 a0001c0001t0044g0134 a0001c0003t0001g0009 a0001c0003t0001g0012 a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0018 a0001c0003t0002g0001 a0001c0003t0002g0019 a0001c0003t0003g0020 a0001c0003t0003g0022 a0001c0003t0004g0011 a0001c0003t0004g0013 a0001c0003t0004g0014 a0001c0003t0004g0021 a0001c0003t0011g0010 a0001c0003t0045g0008 a0001c0003t0046g0007 a0001c0004t0001g0034 a0001c0004t0010g0179 a0001c0004t0010g0180 a0001c0004t0010g0181 a0001c0004t0010g0182 a0001c0006t0004g0169 a0001c0006t0024g0168 a0001c0007t0003g0177 a0001c0007t0015g0176 a0001c0009t0027g0178	124	188	0.6596	-31	c.165 others(50): Show c.1656+9491_1656+9521delTAATCTATATCTATATAGATATAATC TATAT	SHC3	ENSG00000148082.10	transcript	ENST00000375835.9	protein_coding	11/11			chr9	TogoVar
SHCBP1L_chr1_182894865_182958166	182952178	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01515.hp2 HG02055.hp1 others(1): Show HG01361.hp2 HG01515.hp2 HG02055.hp1 HG03195.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0001 a0001c0001t0001 a0005c0005t0001	a0001c0001t0001g0277 a0001c0001t0001g0291 a0005c0005t0001g0043 others(1): Show a0001c0001t0001g0277 a0001c0001t0001g0291 a0005c0005t0001g0043 a0005c0005t0001g0044	4	302	0.0133	-31	c.405 others(46): Show c.405+520_405+550delATATATATATATATATATTTTTTTTTTTTT T	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHISA5_chr3_48462876_48509174	48475513	CCCACCCT others(24): Show CCCACCCTGGTGTCAGCAAGGCCCCAGACAGG	C C	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	290	0.0035	-31	c.314 others(48): Show c.314+3633_314+3663delCCTGTCTGGGGCCTTGCTGACACCAGGG TGG	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	3/5			chr3	TogoVar
SHISAL1_chr22_44238665_44317951	44314534	AGTTCACC others(24): Show AGTTCACCTTTGACAGAGGTTGGAAGCACAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0009 a0001c0021t0002g0009	1	380	0.0026	-31	c.-18 others(42): Show c.-1847_-1817delGTTGTGCTTCCAACCTCTGTCAAAGGTGAAC	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding		1584		chr22	TogoVar
SHROOM3_chr4_76430229_76788253	76735853	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03579.hp1 HG02809.hp2 HG03579.hp1	a0006 a0006	a0006c0023 a0006c0040 a0006c0023 a0006c0040	a0006c0023t0001 a0006c0040t0001 a0006c0023t0001 a0006c0040t0001	a0006c0023t0001g0033 a0006c0040t0001g0155 a0006c0023t0001g0033 a0006c0040t0001g0155	2	218	0.0092	-31	c.588 others(48): Show c.588-2906_588-2876delAAAAAAAAAAAAAAATATATATATATAT ATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHTN1_chr10_116876477_117010187	116891714	ATTTTAAT others(24): Show ATTTTAATACACTTGTCCAAAACTTCACAAAT	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0007 a0001c0001t0068g0007	1	292	0.0034	-31	c.167 others(50): Show c.1674-5179_1674-5149delATTTGTGAAGTTTTGGACAAGTGTAT TAAAA	SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	16/16			chr10	TogoVar
SHTN1_chr10_116876477_117010187	116963035	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02647.hp1 HG03453.hp2 others(3): Show HG00609.hp2 HG02647.hp1 HG03453.hp2 NA18980.hp1 NA18991.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0001 a0001c0001t0028	a0001c0001t0001g0005 a0001c0001t0001g0270 a0001c0001t0001g0273 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0284 a0001c0001t0028g0017 a0001c0001t0028g0018	6	292	0.0206	-31	c.173 others(48): Show c.173-2836_173-2806delAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	3/16			chr10	TogoVar

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