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
SERGEF_chr11_17783048_18018047	17896853	T T	TAAGGGAA others(18): Show TAAGGGAAGGGAAGGGAAGGGAAGGG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18943.hp2 NA18906.hp1 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0129 a0001c0002t0001g0022 a0001c0001t0001g0129 a0001c0002t0001g0022	2	226	0.0089	25	c.101 others(46): Show c.1012-18634_1012-18610dupCCCTTCCCTTCCCTTCCCTTCCCT T	SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding	9/10			chr11	TogoVar
SERHL2_chr22_42548956_42579382	42559229	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02056.hp1 NA19003.hp1 HG02027.hp1 HG02056.hp1 NA19003.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0253 a0002c0002t0001g0264 a0002c0002t0001g0344 a0002c0002t0001g0253 a0002c0002t0001g0264 a0002c0002t0001g0344	3	432	0.0069	25	c.533 others(40): Show c.533+775_533+799dupAAAAAAAAAAAAAAAAAAAAAAAAA	SERHL2	ENSG00000183569.18	transcript	ENST00000327678.10	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
SERINC1_chr6_122438351_122476807	122441327	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 NA18953.hp1 NA19054.hp1 HG02132.hp1 NA18953.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0185 a0001c0001t0002g0094 a0001c0001t0001g0001 a0001c0001t0001g0185 a0001c0001t0002g0094	3	366	0.0082	25	c.37 others(36): Show c.3716_*3717insTTTTTTTTTTTTTTTTTTTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding		2023		chr6	TogoVar
SERINC1_chr6_122438351_122476807	122451776	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	366	0.0027	25	c.760 others(38): Show c.760-23_760-22insATATATATATATTTTTTTTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding	6/9			chr6	TogoVar
SERINC2_chr1_31408213_31439678	31414421	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02630.hp2 NA18997.hp2 others(1): Show HG02004.hp1 HG02630.hp2 NA18997.hp2 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0282 a0002c0002t0001g0361 a0002c0002t0001g0362 others(1): Show a0002c0002t0001g0282 a0002c0002t0001g0361 a0002c0002t0001g0362 a0002c0002t0001g0364	4	376	0.0106	25	c.39+ others(40): Show c.39+1117_39+1118insGTGTGTGTGTGTGTGTGTGTGTGTG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	1/9			chr1	TogoVar
SERINC5_chr5_80133727_80261048	80228261	A A	AGGAAAGG others(18): Show AGGAAAGGAGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0201 a0001c0002t0005g0201	1	286	0.0035	25	c.28- others(42): Show c.28-25233_28-25209dupCTCCCTCCCTCCCTCCCTCCTTTCC	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	1/11			chr5	TogoVar
SERPINA5_chr14_94576426_94598118	94591549	G G	GTTCTATT others(18): Show GTTCTATTCTATTCTATTCTATTCTA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00597.hp2 others(44): Show HG00408.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG01074.hp1 HG01192.hp2 HG01515.hp1 HG01517.hp1 HG02027.hp1 HG02055.hp2 HG02135.hp1 HG02300.hp2 HG02451.hp2 HG02698.hp2 HG02896.hp2 HG03017.hp1 HG03041.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG04115.hp2 HG04199.hp2 NA18944.hp1 NA18945.hp1 NA18952.hp2 NA18972.hp2 NA18994.hp1 NA18999.hp1 NA19000.hp1 NA19009.hp2 NA19012.hp1 NA19030.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp2 NA19080.hp1 NA19081.hp2 NA19085.hp2 NA19089.hp1 NA19090.hp1 NA19091.hp2 NA20129.hp2 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0007 a0002c0003 others(4): Show a0001c0001 a0001c0007 a0002c0003 a0002c0004 a0002c0009 a0003c0002 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0007t0006 a0002c0003t0003 a0002c0003t0006 a0002c0003t0014 a0002c0004t0005 a0002c0004t0007 a0002c0004t0011 a0002c0009t0003 a0003c0002t0001 a0003c0002t0002 a0003c0002t0008 a0003c0002t0021 a0004c0005t0009	a0001c0001t0001g0012 a0001c0001t0001g0201 a0001c0001t0001g0204 others(31): Show a0001c0001t0001g0012 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0229 a0001c0001t0001g0238 a0001c0001t0001g0247 a0001c0001t0002g0007 a0001c0001t0002g0083 a0001c0001t0002g0087 a0001c0001t0002g0095 a0001c0001t0002g0108 a0001c0001t0002g0114 a0001c0001t0002g0118 a0001c0001t0013g0089 a0001c0001t0013g0096 a0001c0007t0006g0101 a0002c0003t0003g0067 a0002c0003t0003g0151 a0002c0003t0003g0265 a0002c0003t0006g0111 a0002c0003t0014g0062 a0002c0004t0005g0042 a0002c0004t0005g0047 a0002c0004t0007g0309 a0002c0004t0011g0152 a0002c0009t0003g0277 a0003c0002t0001g0058 a0003c0002t0001g0182 a0003c0002t0001g0249 a0003c0002t0002g0085 a0003c0002t0008g0165 a0003c0002t0008g0172 a0003c0002t0021g0058 a0004c0005t0009g0090	47	464	0.1013	25	c.103 others(42): Show c.1039-468_1039-444dupATTCTATTCTATTCTATTCTATTCT	SERPINA5	ENSG00000188488.14	transcript	ENST00000329597.12	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
SERPINA5_chr14_94576426_94598118	94591549	G G	GTTCTGTT others(18): Show GTTCTGTTCTATTCTATTCTATTCTA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0139 a0002c0004t0005g0139	1	464	0.0022	25	c.103 others(42): Show c.1039-504_1039-503insGTTCTATTCTATTCTATTCTATTCT	SERPINA5	ENSG00000188488.14	transcript	ENST00000329597.12	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
SERPINB11_chr18_63697960_63728893	63709616	T T	TAAATAAA others(18): Show TAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00323.hp2 others(122): Show HG00099.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG01070.hp1 HG01071.hp1 HG01106.hp2 HG01175.hp2 HG01358.hp2 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG01943.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02165.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02683.hp1 HG02698.hp1 HG02738.hp2 HG02970.hp1 HG03017.hp1 HG03239.hp2 HG03491.hp1 HG03654.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18961.hp2 NA18962.hp2 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp2 NA18992.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0002 a0003 a0005 others(4): Show a0002 a0003 a0005 a0006 a0008 a0011 a0012	a0002c0001 a0003c0003 a0005c0006 others(5): Show a0002c0001 a0003c0003 a0005c0006 a0006c0013 a0006c0026 a0008c0014 a0011c0027 a0012c0025	a0002c0001t0001 a0002c0001t0003 a0002c0001t0007 others(8): Show a0002c0001t0001 a0002c0001t0003 a0002c0001t0007 a0003c0003t0001 a0003c0003t0003 a0005c0006t0002 a0006c0013t0002 a0006c0026t0002 a0008c0014t0001 a0011c0027t0001 a0012c0025t0001	a0002c0001t0001g0002 a0002c0001t0001g0020 a0002c0001t0001g0032 others(32): Show a0002c0001t0001g0002 a0002c0001t0001g0020 a0002c0001t0001g0032 a0002c0001t0001g0055 a0002c0001t0001g0056 a0002c0001t0001g0059 a0002c0001t0001g0062 a0002c0001t0001g0063 a0002c0001t0001g0064 a0002c0001t0001g0065 a0002c0001t0001g0068 a0002c0001t0001g0070 a0002c0001t0001g0089 a0002c0001t0001g0092 a0002c0001t0001g0094 a0002c0001t0001g0134 a0002c0001t0003g0002 a0002c0001t0007g0061 a0003c0003t0001g0003 a0003c0003t0001g0006 a0003c0003t0001g0020 a0003c0003t0001g0028 a0003c0003t0001g0058 a0003c0003t0001g0083 a0003c0003t0003g0003 a0005c0006t0002g0019 a0005c0006t0002g0069 a0006c0013t0002g0066 a0006c0013t0002g0071 a0006c0026t0002g0002 a0008c0014t0001g0002 a0008c0014t0001g0048 a0008c0014t0001g0067 a0011c0027t0001g0082 a0012c0025t0001g0002	125	422	0.2962	25	c.-15 others(40): Show c.-15-554_-15-530dupTAAAATAAAATAAAATAAAATAAAA	SERPINB11	ENSG00000206072.13	transcript	ENST00000544088.6	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB12_chr18_63537369_63574329	63559062	C C	CTCTTTCT others(18): Show CTCTTTCTTTCTTTCTTTCTCTCTTT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	402	0.0025	25	c.304 others(40): Show c.304-516_304-515insTCTTTCTTTCTTTCTTTCTCTCTTT	SERPINB12	ENSG00000166634.7	transcript	ENST00000382768.2	protein_coding	3/7			chr18	TogoVar
SERPINB4_chr18_63632259_63649256	63636674	T T	TTTAGCTA others(18): Show TTTAGCTAATCTAAGTCTTCTGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	25	c.10 others(36): Show c.1044_*1045insTTCTCAGAAGACTTAGATTAGCTAA	SERPINB4	ENSG00000206073.11	transcript	ENST00000341074.10	protein_coding		584		chr18	TogoVar
SERPINB7_chr18_63770418_63810370	63783235	A A	AGAAAGAA others(18): Show AGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA20300.hp2 HG02818.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0261 a0001c0001t0014g0394 a0001c0001t0003g0261 a0001c0001t0014g0394	2	432	0.0046	25	c.168 others(40): Show c.168+695_168+696insGAAAGAAAGAAAGAAAGAAAGAAAG	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7			chr18	TogoVar
SERPIND1_chr22_20769113_20792720	20780775	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01433.hp1 HG02071.hp1 others(6): Show HG01243.hp2 HG01433.hp1 HG02071.hp1 HG02523.hp2 HG02630.hp1 HG03927.hp1 NA18906.hp1 NA18989.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0013 a0001c0001t0001g0043 a0001c0001t0001g0046 others(3): Show a0001c0001t0001g0013 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0007g0050	9	412	0.0218	25	c.889 others(40): Show c.889+590_889+591insAAAAAAAAAAAAAAAAAAAAAAAAA	SERPIND1	ENSG00000099937.11	transcript	ENST00000215727.10	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
SERPINE1_chr7_101122104_101144247	101141206	A A	ATTGTGAG others(18): Show ATTGTGAGGACAAAAATGATGTAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0212	1	436	0.0023	25	c.37 others(36): Show c.3764_*3765insTTGTGAGGACAAAAATGATGTAGAC	SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding		1960		chr7	TogoVar
SERPINE2_chr2_223970045_224044286	224005065	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0340 a0001c0001t0002g0340	1	374	0.0027	25	c.-22 others(42): Show c.-22-3144_-22-3143insTATATATATATATATATATATATAT	SERPINE2	ENSG00000135919.14	transcript	ENST00000409304.6	protein_coding	1/8			chr2	TogoVar
SERPINF1_chr17_1757060_1782565	1779479	A A	AAAAACAA others(18): Show AAAAACAAAACAAAACAAAACAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00738.hp2 HG00741.hp1 others(3): Show HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01099.hp1 HG01516.hp2 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0201 a0001c0001t0001g0213 a0001c0001t0001g0015 a0001c0001t0001g0201 a0001c0001t0001g0213	6	444	0.0135	25	c.20 others(36): Show c.2033_*2034insAAAACAAAACAAAACAAAACAAAAC	SERPINF1	ENSG00000132386.11	transcript	ENST00000254722.9	protein_coding		1915		chr17	TogoVar
SERTAD1_chr19_40416589_40430992	40418190	T T	TTTTTCTT others(18): Show TTTTTCTTTTCTTTTCTTTTCTTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0010 a0001c0003t0007g0010	1	368	0.0027	25	c.46 others(36): Show c.4645_*4646insGAAAAGAAAAGAAAAGAAAAGAAAA	SERTAD1	ENSG00000197019.5	transcript	ENST00000357949.5	protein_coding		3398		chr19	TogoVar
SESN1_chr6_108979309_109099846	109064589	A A	AGAGGGGA others(18): Show AGAGGGGAGGGGAGGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	184	0.0054	25	c.279 others(44): Show c.279+29181_279+29205dupCCCTCCCCTCCCCTCCCCTCCCCTC	SESN1	ENSG00000080546.14	transcript	ENST00000436639.7	protein_coding	1/9			chr6	TogoVar
SETBP1_chr18_44675888_45073510	44885842	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19083.hp2 NA19030.hp1 NA19083.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0024 a0005c0006t0001 a0001c0001t0024 a0005c0006t0001	a0001c0001t0024g0108 a0005c0006t0001g0007 a0001c0001t0024g0108 a0005c0006t0001g0007	2	140	0.0143	25	c.540 others(44): Show c.540+16573_540+16574insAAAAAAAAAAAAAAAAAAAAAAAAA	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	45013434	C C	CTTTCTTT others(18): Show CTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	140	0.0071	25	c.400 others(46): Show c.4001-25048_4001-25047insCTTTCTTTCTTTCTTTCTTTCTTT T	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETD3_chr14_99392748_99485859	99423588	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01257.hp2 HG01258.hp2 others(5): Show HG01243.hp1 HG01257.hp2 HG01258.hp2 HG02165.hp2 HG02896.hp2 HG02897.hp1 NA18981.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0027 others(4): Show a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0051 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0086	8	290	0.0276	25	c.676 others(42): Show c.676-9679_676-9655dupTTTTTTTTTTTTTTTTTTTTTTTTT	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	6/12			chr14	TogoVar
SETD5_chr3_9392615_9483154	9445965	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0010 a0003c0005t0010	a0003c0005t0010g0200 a0003c0005t0010g0200	1	240	0.0042	25	c.152 others(42): Show c.1524+248_1524+249insTTTTTTTTTTTTTTTTTTTTTTTTT	SETD5	ENSG00000168137.20	transcript	ENST00000402198.7	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
SETD6_chr16_58510517_58528842	58516124	T T	TGGGGCGG others(18): Show TGGGGCGGGGCGGGGCGGGGCGGGGC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0055 a0001c0001t0015g0055	1	426	0.0024	25	c.334 others(38): Show c.334+31_335-50dupGCGGGGCGGGGCGGGGCGGGGCGGG	SETD6	ENSG00000103037.12	transcript	ENST00000219315.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
SETD6_chr16_58510517_58528842	58516148	G G	GCGGGGCG others(18): Show GCGGGGCGGGGCGGGGCGGGGCGGTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02300.hp2 HG03704.hp1 others(1): Show HG01168.hp2 HG02300.hp2 HG03704.hp1 NA20805.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0017 a0001c0003t0012g0017	4	426	0.0094	25	c.335 others(38): Show c.335-50_335-49insGCGGGGCGGGGCGGGGCGGTTCGGG	SETD6	ENSG00000103037.12	transcript	ENST00000219315.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
SETD7_chr4_139501038_139561219	139544290	C C	CTAAAATA others(18): Show CTAAAATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01099.hp2 HG01255.hp1 others(2): Show HG00438.hp1 HG01099.hp2 HG01255.hp1 HG01981.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0018 a0001c0006t0045 a0001c0001t0001 a0001c0006t0018 a0001c0006t0045	a0001c0001t0001g0018 a0001c0001t0001g0219 a0001c0006t0018g0067 others(1): Show a0001c0001t0001g0018 a0001c0001t0001g0219 a0001c0006t0018g0067 a0001c0006t0045g0266	5	316	0.0158	25	c.170 others(42): Show c.170+2605_170+2629dupTTTTATTTTATTTTATTTTATTTTA	SETD7	ENSG00000145391.14	transcript	ENST00000274031.8	protein_coding	2/7			chr4	TogoVar
SEZ6L_chr22_26164462_26388596	26348646	A A	AAGAAAGA others(18): Show AAGAAAGAAAGAAAGAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0079 a0001c0001t0005g0079	1	240	0.0042	25	c.240 others(42): Show c.2407+734_2407+735insGAAAGAAAGAAAGAAGAAAGAAAGA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348646	A A	AAGAAAGA others(18): Show AAGAAAGAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0041 a0002c0002t0003g0041	1	240	0.0042	25	c.240 others(42): Show c.2407+734_2407+735insGAAAGAAGAAAGAAAGAAAGAAAGA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348767	A A	AGGGGAGG others(18): Show AGGGGAGGGAAGGAGAGGGAAGGGAG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0090 a0002c0002t0001g0090	1	240	0.0042	25	c.240 others(42): Show c.2407+866_2407+867insAGAGGGAAGGGAGGGGGAGGGAAGG	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26369341	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00673.hp2 HG01109.hp1 others(24): Show HG00323.hp1 HG00673.hp2 HG01109.hp1 HG01928.hp1 HG02083.hp1 HG02083.hp2 HG02258.hp2 HG02273.hp2 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG02738.hp2 HG03225.hp2 HG03239.hp2 NA18942.hp1 NA18942.hp2 NA18960.hp1 NA18960.hp2 NA19000.hp1 NA19000.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19076.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0010 others(2): Show a0001c0001 a0001c0003 a0001c0010 a0002c0002 a0002c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0024 a0001c0003t0002 a0001c0003t0016 a0001c0010t0002 a0002c0002t0001 a0002c0002t0009 a0002c0005t0003	a0001c0001t0002g0012 a0001c0001t0002g0056 a0001c0001t0002g0077 others(24): Show a0001c0001t0002g0012 a0001c0001t0002g0056 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0139 a0001c0001t0002g0145 a0001c0001t0002g0170 a0001c0001t0002g0177 a0001c0001t0003g0035 a0001c0001t0003g0037 a0001c0001t0003g0070 a0001c0001t0003g0127 a0001c0001t0003g0167 a0001c0001t0005g0029 a0001c0001t0005g0053 a0001c0001t0005g0079 a0001c0001t0005g0146 a0001c0001t0005g0200 a0001c0001t0011g0168 a0001c0001t0024g0064 a0001c0003t0002g0065 a0001c0003t0016g0172 a0001c0010t0002g0031 a0002c0002t0001g0003 a0002c0002t0009g0193 a0002c0005t0003g0058 a0002c0005t0003g0138	27	240	0.1125	25	c.279 others(44): Show c.2794+3779_2794+3780insTTTTTTTTTTTTTTTTTTTTTTTTT	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SF3A3_chr1_37951975_37995022	37963380	C C	CAAATGCT others(18): Show CAAATGCTATGTGGTGAACCTAAAAA	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0335 a0001c0001t0003g0335	1	400	0.0025	25	c.137 others(44): Show c.1373-3230_1373-3206dupTTTTTAGGTTCACCACATAGCATTT	SF3A3	ENSG00000183431.12	transcript	ENST00000373019.5	protein_coding	15/16			chr1	TogoVar
SF3A3_chr1_37951975_37995022	37983586	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA19090.hp2 HG00423.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0043 a0001c0001t0012 a0001c0001t0043	a0001c0001t0012g0216 a0001c0001t0043g0215 a0001c0001t0012g0216 a0001c0001t0043g0215	2	400	0.0050	25	c.468 others(40): Show c.468+582_468+583insTTTTTTTTTTTTTTTTTTTTTTTTT	SF3A3	ENSG00000183431.12	transcript	ENST00000373019.5	protein_coding	6/16			chr1	TogoVar
SF3B1_chr2_197384784_197440028	197418234	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02965.hp2 HG01891.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0241 a0001c0001t0001g0242	2	344	0.0058	25	c.495 others(40): Show c.495+250_495+274dupTTTTTTTTTTTTTTTTTTTTTTTTT	SF3B1	ENSG00000115524.17	transcript	ENST00000335508.11	protein_coding	5/24			chr2	TogoVar
SFI1_chr22_31491536_31623588	31582236	A A	ATATATAT others(18): Show ATATATATATATATATATAATTTTTT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0105 a0002c0002t0001g0105	1	322	0.0031	25	c.124 others(44): Show c.1249-1638_1249-1637insATATATATATATATATAATTTTTTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31582236	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA19057.hp1 HG02602.hp1 NA19057.hp1	a0002 a0018 a0002 a0018	a0002c0002 a0018c0022 a0002c0002 a0018c0022	a0002c0002t0001 a0018c0022t0001 a0002c0002t0001 a0018c0022t0001	a0002c0002t0001g0060 a0018c0022t0001g0019 a0002c0002t0001g0060 a0018c0022t0001g0019	2	322	0.0062	25	c.124 others(44): Show c.1249-1638_1249-1637insATATATATATATATATATTTTTTTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31612392	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0001 a0014c0014t0001	a0014c0014t0001g0095 a0014c0014t0001g0095	1	322	0.0031	25	c.249 others(42): Show c.2490+552_2490+553insTATATATATATATATATATATATAT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	24/32			chr22	TogoVar
SFI1_chr22_31491536_31623588	31612394	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18940.hp1 NA19070.hp2 HG03130.hp2 NA18940.hp1 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0093 a0002c0002t0001g0104 a0002c0002t0003g0124 a0002c0002t0001g0093 a0002c0002t0001g0104 a0002c0002t0003g0124	3	322	0.0093	25	c.249 others(42): Show c.2490+554_2490+555insTATATATATATATATATATATATAT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	24/32			chr22	TogoVar
SFI1_chr22_31491536_31623588	31612396	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0102 a0002c0002t0001g0102	1	322	0.0031	25	c.249 others(42): Show c.2490+556_2490+557insTATATATATATATATATATATATAT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	24/32			chr22	TogoVar
SFI1_chr22_31491536_31623588	31612398	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0010 a0010	a0010c0021 a0010c0021	a0010c0021t0001 a0010c0021t0001	a0010c0021t0001g0030 a0010c0021t0001g0030	1	322	0.0031	25	c.249 others(42): Show c.2490+559_2490+560insAAAAAAAAAAAAATATATATATATA	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	24/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFMBT1_chr3_52898572_53051073	52945136	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02257.hp2 HG03831.hp1 others(7): Show HG01358.hp1 HG02257.hp2 HG03831.hp1 HG03942.hp2 NA18612.hp1 NA18960.hp1 NA18979.hp2 NA19012.hp1 NA19054.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0001	a0001c0001t0001g0018 a0001c0001t0001g0056 a0001c0001t0001g0289 others(7): Show a0001c0001t0001g0018 a0001c0001t0001g0056 a0001c0001t0001g0289 a0001c0001t0002g0006 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0004g0291 a0001c0001t0004g0298 a0001c0001t0004g0299 a0001c0003t0001g0204	10	328	0.0305	25	c.124 others(42): Show c.124-1544_124-1543insTTTTTTTTTTTTTTTTTTTTTTTTT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	3/20			chr3	TogoVar
SFMBT2_chr10_7153624_7416034	7257123	G G	GAGGGGAG others(18): Show GAGGGGAGGGGAGGGGAGGGGAAAGA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01993.hp1 HG02148.hp1 HG01496.hp1 HG01993.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0033 a0001c0001t0003 a0001c0001t0033	a0001c0001t0003g0105 a0001c0001t0003g0138 a0001c0001t0033g0142 a0001c0001t0003g0105 a0001c0001t0003g0138 a0001c0001t0033g0142	3	144	0.0208	25	c.871 others(42): Show c.871-8475_871-8474insTCTTTCCCCTCCCCTCCCCTCCCCT	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	7/20			chr10	TogoVar
SFT2D3_chr2_127696497_127710242	127700138	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0000 a0005c0005t0002g0000	1	386	0.0026	25	c.-13 others(36): Show c.-1391_-1390insTATATATATATATATATATATATAT	SFT2D3	ENSG00000173349.6	transcript	ENST00000310981.6	protein_coding		1358		chr2	TogoVar
SFXN5_chr2_72937036_73076712	73039776	C C	CTATTTTA others(18): Show CTATTTTATTTTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	250	0.0040	25	c.249 others(42): Show c.249+1053_249+1077dupAAATAAAATAAAATAAAATAAAATA	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	3/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73050421	C C	CACACACA others(18): Show CACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	250	0.0040	25	c.171 others(42): Show c.171+8106_171+8107insTGTGTGTGTGTGTGTGTGTGTGTGT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SGCD_chr5_156322164_156772788	156372926	C C	CCTAGACA others(18): Show CCTAGACATGTGTTTGCCTTTGTGTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01169.hp1 HG02559.hp2 others(5): Show HG01070.hp2 HG01169.hp1 HG02559.hp2 HG02630.hp1 HG02895.hp2 HG02897.hp1 HG03098.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0029 a0001c0001t0043	a0001c0001t0001g0058 a0001c0001t0003g0056 a0001c0001t0012g0059 others(5): Show a0001c0001t0001g0058 a0001c0001t0003g0056 a0001c0001t0012g0059 a0001c0001t0012g0060 a0001c0001t0013g0057 a0001c0001t0014g0055 a0001c0001t0029g0024 a0001c0001t0043g0139	8	150	0.0533	25	c.192 others(44): Show c.192+28249_192+28250insCTAGACATGTGTTTGCCTTTGTGTT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8			chr5	TogoVar
SGCD_chr5_156322164_156772788	156406018	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02040.hp1 HG03098.hp1 others(5): Show HG01978.hp2 HG02040.hp1 HG03098.hp1 HG03471.hp2 NA18953.hp2 NA19010.hp1 NA19010.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0031 a0001c0002t0002 a0001c0002t0008 others(4): Show a0001c0001t0031 a0001c0002t0002 a0001c0002t0008 a0001c0002t0010 a0001c0002t0011 a0001c0002t0023 a0001c0002t0044	a0001c0001t0031g0021 a0001c0002t0002g0093 a0001c0002t0008g0006 others(5): Show a0001c0001t0031g0021 a0001c0002t0002g0093 a0001c0002t0008g0006 a0001c0002t0008g0076 a0001c0002t0010g0094 a0001c0002t0011g0090 a0001c0002t0023g0112 a0001c0002t0044g0026	8	150	0.0533	25	c.192 others(44): Show c.192+61357_192+61358insAAAAAAAAAAAAAAAAAAAAAAAAA	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCG_chr13_23175979_23330162	23241381	A A	ATACATTT others(18): Show ATACATTTTCCATACATAAAAAATGT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	354	0.0028	25	c.297 others(42): Show c.297+6669_297+6670insTACATTTTCCATACATAAAAAATGT	SGCG	ENSG00000102683.8	transcript	ENST00000218867.4	protein_coding	3/7			chr13	TogoVar
SGCZ_chr8_14079845_15243431	14493359	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0013 a0001c0001t0031g0013	1	102	0.0098	25	c.234 others(44): Show c.234+61348_234+61372dupAAAAAAAAAAAAAAAAAAAAAAAAA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14551448	A A	ATATATAT others(18): Show ATATATATTATATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0040 a0001c0001t0042g0040	1	102	0.0098	25	c.234 others(42): Show c.234+3259_234+3283dupATATATATAATATATATAATATATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14782681	T T	TTATTAAT others(18): Show TTATTAATAAAAATCTGCTAATAATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0019 a0001c0001t0046g0019	1	102	0.0098	25	c.40- others(44): Show c.40-227756_40-227755insTATTATTAGCAGATTTTTATTAATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	15172163	T T	TTATTTAT others(18): Show TTATTTATTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp1 HG02886.hp1 others(4): Show HG01243.hp2 HG02109.hp1 HG02886.hp1 HG02976.hp1 HG03195.hp2 NA19240.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0014 a0001c0001t0018 a0001c0001t0020 others(4): Show a0001c0001t0014 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0039 a0001c0001t0091 a0002c0002t0004	a0001c0001t0014g0024 a0001c0001t0018g0037 a0001c0001t0020g0025 others(4): Show a0001c0001t0014g0024 a0001c0001t0018g0037 a0001c0001t0020g0025 a0001c0001t0022g0007 a0001c0001t0039g0036 a0001c0001t0091g0102 a0002c0002t0004g0027	7	102	0.0686	25	c.39+ others(42): Show c.39+65421_39+65422insTAAAATAAAATAAAATAAATAAATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar

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