Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SLC37A1_chr21_42508852_42586426	42570264	CGGCAGGC others(44): Show CGGCAGGCAGGGTGGCCGTTGTCATGCGACACACGGCCTGGTTCTGAGAA GT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(99): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01981.hp2 HG02040.hp2 HG02080.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02258.hp2 HG02293.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03453.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18941.hp2 NA18959.hp2 NA18969.hp2 NA18971.hp2 NA18994.hp2 NA19043.hp2 NA19070.hp1 NA19081.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0020 a0001c0001t0023 a0001c0001t0026 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0044 a0001c0001t0048 a0001c0003t0005 a0001c0003t0010 a0001c0003t0015 a0001c0003t0016 a0001c0003t0022 a0001c0004t0005 a0001c0008t0005 a0001c0009t0001 a0003c0005t0029 a0003c0005t0036	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(91): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0142 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0003g0055 a0001c0001t0004g0178 a0001c0001t0004g0185 a0001c0001t0004g0190 a0001c0001t0004g0201 a0001c0001t0004g0202 a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0210 a0001c0001t0006g0030 a0001c0001t0008g0035 a0001c0001t0008g0036 a0001c0001t0008g0038 a0001c0001t0008g0039 a0001c0001t0009g0090 a0001c0001t0009g0258 a0001c0001t0009g0306 a0001c0001t0009g0307 a0001c0001t0009g0308 a0001c0001t0011g0189 a0001c0001t0020g0015 a0001c0001t0020g0106 a0001c0001t0023g0216 a0001c0001t0023g0218 a0001c0001t0026g0043 a0001c0001t0026g0044 a0001c0001t0031g0118 a0001c0001t0032g0001 a0001c0001t0034g0049 a0001c0001t0044g0045 a0001c0001t0048g0214 a0001c0003t0005g0223 a0001c0003t0005g0224 a0001c0003t0005g0226 a0001c0003t0010g0029 a0001c0003t0015g0187 a0001c0003t0016g0186 a0001c0003t0016g0191 a0001c0003t0016g0192 a0001c0003t0022g0212 a0001c0003t0022g0213 a0001c0004t0005g0131 a0001c0004t0005g0159 a0001c0004t0005g0160 a0001c0004t0005g0161 a0001c0008t0005g0229 a0001c0009t0001g0002 a0001c0009t0001g0112 a0001c0009t0001g0114 a0003c0005t0029g0177 a0003c0005t0029g0183 a0003c0005t0036g0184	102	353	0.2890	-51	c.142 others(70): Show c.1423+1829_1423+1879delCAGGCAGGGTGGCCGTTGTCATGCGA CACACGGCCTGGTTCTGAGAAGTGG		SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	17/19					INFO_REALIGN_3_PRIME	chr21	TogoVar
SLC38A10_chr17_81239811_81300307	81253711	ATCACCAT others(44): Show ATCACCATCATCACCATCTCCATCCCTACCACCATCACCATCATCATCAC CG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00438.hp2 others(106): Show HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01981.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18950.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18995.hp1 NA19005.hp2 NA19043.hp1 NA19043.hp2 NA19070.hp1 NA19077.hp1 NA19080.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0003 a0004 others(7): Show a0001 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0012 a0013	a0001c0002 a0001c0003 a0001c0004 others(24): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0012 a0001c0019 a0001c0022 a0001c0024 a0001c0027 a0001c0032 a0001c0037 a0003c0006 a0003c0029 a0003c0030 a0004c0009 a0004c0023 a0004c0038 a0005c0010 a0005c0025 a0006c0014 a0007c0036 a0009c0031 a0010c0021 a0012c0020 a0013c0028	a0001c0002t0003 a0001c0003t0001 a0001c0003t0003 others(34): Show a0001c0002t0003 a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0003t0007 a0001c0004t0001 a0001c0004t0003 a0001c0004t0004 a0001c0005t0001 a0001c0005t0003 a0001c0005t0005 a0001c0005t0014 a0001c0007t0001 a0001c0007t0005 a0001c0008t0005 a0001c0012t0001 a0001c0019t0012 a0001c0022t0001 a0001c0024t0001 a0001c0027t0001 a0001c0032t0001 a0001c0037t0001 a0003c0006t0001 a0003c0006t0004 a0003c0029t0001 a0003c0030t0001 a0004c0009t0005 a0004c0023t0001 a0004c0038t0001 a0005c0010t0003 a0005c0025t0001 a0006c0014t0005 a0007c0036t0003 a0009c0031t0001 a0010c0021t0005 a0012c0020t0002 a0013c0028t0001	a0001c0002t0003g0185 a0001c0003t0001g0002 a0001c0003t0001g0018 others(100): Show a0001c0002t0003g0185 a0001c0003t0001g0002 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0050 a0001c0003t0001g0057 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0062 a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0003t0001g0066 a0001c0003t0003g0186 a0001c0003t0003g0208 a0001c0003t0005g0164 a0001c0003t0007g0179 a0001c0003t0007g0180 a0001c0004t0001g0109 a0001c0004t0003g0006 a0001c0004t0003g0187 a0001c0004t0003g0188 a0001c0004t0003g0189 a0001c0004t0003g0190 a0001c0004t0003g0191 a0001c0004t0003g0193 a0001c0004t0003g0194 a0001c0004t0003g0195 a0001c0004t0003g0197 a0001c0004t0003g0198 a0001c0004t0003g0199 a0001c0004t0003g0200 a0001c0004t0003g0201 a0001c0004t0003g0202 a0001c0004t0003g0204 a0001c0004t0003g0206 a0001c0004t0004g0003 a0001c0005t0001g0042 a0001c0005t0001g0043 a0001c0005t0001g0044 a0001c0005t0001g0045 a0001c0005t0001g0046 a0001c0005t0001g0047 a0001c0005t0001g0048 a0001c0005t0001g0049 a0001c0005t0001g0067 a0001c0005t0001g0068 a0001c0005t0003g0182 a0001c0005t0003g0207 a0001c0005t0005g0163 a0001c0005t0014g0183 a0001c0007t0001g0054 a0001c0007t0005g0165 a0001c0007t0005g0166 a0001c0007t0005g0167 a0001c0007t0005g0168 a0001c0007t0005g0169 a0001c0007t0005g0170 a0001c0007t0005g0171 a0001c0007t0005g0172 a0001c0007t0005g0173 a0001c0007t0005g0174 a0001c0007t0005g0175 a0001c0007t0005g0176 a0001c0007t0005g0177 a0001c0008t0005g0178 a0001c0012t0001g0016 a0001c0012t0001g0017 a0001c0019t0012g0181 a0001c0022t0001g0051 a0001c0024t0001g0058 a0001c0027t0001g0061 a0001c0032t0001g0024 a0001c0037t0001g0055 a0003c0006t0001g0001 a0003c0006t0001g0013 a0003c0006t0001g0014 a0003c0006t0001g0022 a0003c0006t0001g0025 a0003c0006t0001g0026 a0003c0006t0001g0027 a0003c0006t0001g0028 a0003c0006t0001g0029 a0003c0006t0001g0074 a0003c0006t0001g0125 a0003c0006t0004g0132 a0003c0006t0004g0133 a0003c0029t0001g0023 a0003c0030t0001g0030 a0004c0009t0005g0158 a0004c0009t0005g0160 a0004c0009t0005g0161 a0004c0009t0005g0162 a0004c0023t0001g0065 a0004c0038t0001g0056 a0005c0010t0003g0005 a0005c0010t0003g0184 a0005c0025t0001g0041 a0006c0014t0005g0004 a0007c0036t0003g0203 a0009c0031t0001g0052 a0010c0021t0005g0159 a0012c0020t0002g0084 a0013c0028t0001g0021	109	212	0.5142	-51	c.128 others(68): Show c.1289-522_1289-472delCGGTGATGATGATGGTGATGGTGGTAGG GATGGAGATGGTGATGATGGTGA		SLC38A10	ENSG00000157637.13	transcript	ENST00000374759.8	protein_coding	11/15						chr17	TogoVar
SLC39A14_chr8_22362278_22427736	22396385	TAGAGAGA others(44): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGGGGGGGGAGAGAGAGAGAG AG	T T	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0007 a0002c0006t0007	a0002c0006t0007g0215 a0002c0006t0007g0215	1	245	0.0041	-51	c.-15 others(68): Show c.-15-8298_-15-8248delAGAGAGAGAGAGAGAGGGGGGGGGGAGA GAGAGAGAGAGAGAGAGAGAGAG		SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141203432	GGAGAGAG others(44): Show GGAGAGAGAGAGAGAGAGACCGTGGAGAGAGAGAGAGAGAGAGAGAGAGA GA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0041 a0001c0015t0002g0041	1	157	0.0064	-51	c.80 others(62): Show c.8089_*8139delTCTCTCTCTCTCTCTCTCTCTCTCTCTCCACGGT CTCTCTCTCTCTCTCTC		SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding					3741		chr8	TogoVar
SLC66A2_chr18_79897420_79956653	79949400	TCACGCCT others(44): Show TCACGCCTGTAATCCCAACACTTTGGGAGGTCAAGGTGGGTGGATCATGA GG	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0289 a0001c0001t0003g0289	1	350	0.0029	-51	c.203 others(68): Show c.203+1273_203+1323delCCTCATGATCCACCCACCTTGACCTCCC AAAGTGTTGGGATTACAGGCGTG		SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	2/5						chr18	TogoVar
SLC7A11_chr4_138159097_138247349	138242251	ACTCAGAA others(44): Show ACTCAGAAACACCTGTGTATGCATCGTGCTCTCAATTCTCCACCTCCTCG TT	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0053 a0005c0016t0053	a0005c0016t0053g0015 a0005c0016t0053g0015	1	362	0.0028	-51	c.-23 others(60): Show c.-233_-183delAACGAGGAGGTGGAGAATTGAGAGCACGATGCATAC ACAGGTGTTTCTGAG		SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/12				183		chr4	TogoVar
SLCO1A2_chr12_21259600_21339917	21330290	CGAGACCA others(44): Show CGAGACCAGCCTGGGCAACATGTGACACTCCATCTCTATAAATAATACAA AA	C C	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	308	0.0032	-51	c.60+ others(66): Show c.60+4247_60+4297delTTTTGTATTATTTATAGAGATGGAGTGTCA CATGTTGCCCAGGCTGGTCTC		SLCO1A2	ENSG00000084453.17	transcript	ENST00000683939.1	protein_coding	2/14						chr12	TogoVar
SLX9_chr21_44935029_44981973	44953463	GTCCGGGC others(44): Show GTCCGGGCCTCGGGAGCCTGTCCTGCACCATCCCCGGCGGTGGGGCCCTG CA	G G	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	332	0.0030	-51	c.284 others(68): Show c.284-6561_284-6511delCACCATCCCCGGCGGTGGGGCCCTGCAT CCGGGCCTCGGGAGCCTGTCCTG		SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr21	TogoVar
SMG6_chr17_2054843_2308785	2078901	AAAGATAG others(44): Show AAAGATAGGTCATTGGTGATTGGTCAACTATGACACAGACTAAGGTTTGA TG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG02895.hp2 others(6): Show HG02258.hp1 HG02280.hp2 HG02895.hp2 HG02976.hp2 HG03130.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 NA19240.hp1	a0007 a0020 a0007 a0020	a0007c0007 a0020c0031 a0007c0007 a0020c0031	a0007c0007t0001 a0007c0007t0002 a0007c0007t0014 others(1): Show a0007c0007t0001 a0007c0007t0002 a0007c0007t0014 a0020c0031t0001	a0007c0007t0001g0013 a0007c0007t0001g0019 a0007c0007t0001g0023 others(6): Show a0007c0007t0001g0013 a0007c0007t0001g0019 a0007c0007t0001g0023 a0007c0007t0001g0024 a0007c0007t0001g0025 a0007c0007t0001g0026 a0007c0007t0002g0028 a0007c0007t0014g0020 a0020c0031t0001g0097	9	276	0.0326	-51	c.368 others(70): Show c.3681+2858_3681+2908delCATCAAACCTTAGTCTGTGTCATAGT TGACCAATCACCAATGACCTATCTT		SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	15/18						chr17	TogoVar
SMIM10L1_chr12_11166194_11181016	11168200	CGAAAGAA others(44): Show CGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 NA19067.hp2 HG00609.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	369	0.0054	-51	c.-31 others(62): Show c.-3156_-3106delGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAA		SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding					2993		chr12	TogoVar
SMOC2_chr6_168436184_168672992	168593195	ATCTTTCT others(44): Show ATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGAGGACTCACGGG CG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02970.hp1 HG02109.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0013 a0001c0002 a0001c0013	a0001c0002t0007 a0001c0013t0002 a0001c0002t0007 a0001c0013t0002	a0001c0002t0007g0053 a0001c0013t0002g0033 a0001c0002t0007g0053 a0001c0013t0002g0033	2	177	0.0113	-51	c.638 others(68): Show c.638-5607_638-5557delGCCGAGCTCCTCCTCCTTCCTGAGGACT CACGGGCGTCTTTCTAGAGGATC		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168593823	GCCGAGCT others(44): Show GCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCGTCTTTCTAGAGGAT CT	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	176	0.0057	-51	c.638 others(68): Show c.638-4960_638-4910delGTCTTTCTAGAGGATCTCCGAGCTCCTC CTCCTTCCTGAGGCCTCACGGGC		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168593925	GCCGAGCT others(44): Show GCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGAT CT	G G	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	172	0.0058	-51	c.638 others(68): Show c.638-4843_638-4793delCTCCGAGCTCCTCCTCCTTCCTGAGGCC TCACGGGCATCTTTCTAGAGGAT		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168594395	GGAGCTCC others(44): Show GGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCT CC	G G	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA19085.hp1 NA18973.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0111 a0001c0001t0001g0070 a0001c0001t0001g0111	2	115	0.0174	-51	c.638 others(68): Show c.638-4345_638-4295delACGGGCATCTTTCTAGAGGATCTCCGAG CTCCTCCTCCTTCCTGAGGCCTC		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168594992	GGCATCTT others(44): Show GGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGAGGCCTCAC GA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00423.hp1 others(53): Show HG00099.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00597.hp1 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02735.hp2 HG02738.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03834.hp1 HG03834.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp1 NA18941.hp1 NA18941.hp2 NA18950.hp2 NA18951.hp2 NA18960.hp2 NA18963.hp1 NA19000.hp1 NA19079.hp2 NA19091.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0013 a0003c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0013 a0001c0002t0016 a0001c0004t0005 a0001c0013t0002 a0003c0009t0003	a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0001g0098 others(53): Show a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0149 a0001c0001t0004g0118 a0001c0001t0004g0122 a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0017 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0035 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0005g0069 a0001c0002t0007g0053 a0001c0002t0008g0047 a0001c0002t0013g0062 a0001c0002t0016g0046 a0001c0004t0005g0048 a0001c0013t0002g0033 a0003c0009t0003g0086	56	178	0.3146	-51	c.638 others(68): Show c.638-3808_638-3758delCGCCGAGCTCCTCCTCCTTCCTGAGGCC TCACGAGCATCTTTCTAGAGGAT		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMYD1_chr2_88062825_88118384	88065221	CCCCCCTC others(44): Show CCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCC CT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG02451.hp2 HG02622.hp1 others(2): Show HG01358.hp1 HG02451.hp2 HG02622.hp1 HG03540.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0002c0006 a0001c0003 a0001c0004 a0002c0006	a0001c0003t0004 a0001c0004t0001 a0002c0006t0001 a0001c0003t0004 a0001c0004t0001 a0002c0006t0001	a0001c0003t0004g0307 a0001c0004t0001g0292 a0002c0006t0001g0291 others(2): Show a0001c0003t0004g0307 a0001c0004t0001g0292 a0002c0006t0001g0291 a0002c0006t0001g0293 a0002c0006t0001g0294	5	335	0.0149	-51	c.-26 others(62): Show c.-2643_-2593delCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCCTCCCCTCCCCT		SMYD1	ENSG00000115593.15	transcript	ENST00000419482.7	protein_coding					2603		chr2	TogoVar
SNED1_chr2_240993618_241100568	241052750	CGGGGGGC others(44): Show CGGGGGGCCAAGCAGGGTACATGGGATGCTGGTGTCAGGCAGGTAAGGCC TG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02970.hp2 HG03139.hp2 others(3): Show HG02559.hp1 HG02970.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp2	a0001 a0002 a0021 a0001 a0002 a0021	a0001c0068 a0002c0010 a0002c0036 others(1): Show a0001c0068 a0002c0010 a0002c0036 a0021c0070	a0001c0068t0018 a0002c0010t0016 a0002c0010t0019 others(2): Show a0001c0068t0018 a0002c0010t0016 a0002c0010t0019 a0002c0036t0014 a0021c0070t0019	a0001c0068t0018g0320 a0002c0010t0016g0033 a0002c0010t0016g0157 others(3): Show a0001c0068t0018g0320 a0002c0010t0016g0033 a0002c0010t0016g0157 a0002c0010t0019g0195 a0002c0036t0014g0326 a0021c0070t0019g0008	6	340	0.0176	-51	c.208 others(68): Show c.2083+288_2083+338delGCCAAGCAGGGTACATGGGATGCTGGTG TCAGGCAGGTAAGGCCTGGGGGG		SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	15/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1106297	GGGTGCAG others(44): Show GGGTGCAGGGTATGGAGAGCTCCTTGATAATAATGGACACGTGCTGTCAC TC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00438.hp1 others(43): Show HG00099.hp2 HG00323.hp1 HG00438.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG01099.hp1 HG01169.hp1 HG01175.hp1 HG01256.hp1 HG01257.hp1 HG01361.hp1 HG01361.hp2 HG01891.hp1 HG02015.hp1 HG02145.hp1 HG02148.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02572.hp2 HG02683.hp2 HG02735.hp2 HG02738.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03239.hp2 HG03540.hp1 HG03654.hp1 HG03927.hp2 NA18522.hp2 NA18942.hp1 NA18943.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18983.hp2 NA18984.hp2 NA19084.hp2 NA20129.hp2 NA20752.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0012	a0001c0001 a0002c0003 a0002c0005 others(12): Show a0001c0001 a0002c0003 a0002c0005 a0003c0007 a0003c0008 a0003c0026 a0004c0004 a0005c0015 a0006c0009 a0006c0028 a0008c0031 a0009c0012 a0010c0013 a0010c0029 a0012c0019	a0001c0001t0001 a0001c0001t0003 a0002c0003t0001 others(13): Show a0001c0001t0001 a0001c0001t0003 a0002c0003t0001 a0002c0005t0001 a0003c0007t0001 a0003c0008t0001 a0003c0026t0001 a0004c0004t0001 a0005c0015t0001 a0006c0009t0001 a0006c0028t0001 a0008c0031t0001 a0009c0012t0001 a0010c0013t0001 a0010c0029t0001 a0012c0019t0001	a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0027 others(43): Show a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0090 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0003g0128 a0002c0003t0001g0023 a0002c0003t0001g0052 a0002c0003t0001g0089 a0002c0003t0001g0099 a0002c0003t0001g0122 a0002c0003t0001g0161 a0002c0003t0001g0175 a0002c0003t0001g0185 a0002c0005t0001g0013 a0003c0007t0001g0116 a0003c0008t0001g0096 a0003c0008t0001g0105 a0003c0026t0001g0097 a0004c0004t0001g0040 a0004c0004t0001g0047 a0004c0004t0001g0065 a0004c0004t0001g0088 a0004c0004t0001g0112 a0004c0004t0001g0142 a0004c0004t0001g0150 a0004c0004t0001g0151 a0004c0004t0001g0169 a0004c0004t0001g0177 a0005c0015t0001g0037 a0006c0009t0001g0093 a0006c0009t0001g0129 a0006c0028t0001g0127 a0008c0031t0001g0117 a0009c0012t0001g0091 a0010c0013t0001g0140 a0010c0013t0001g0166 a0010c0029t0001g0152 a0012c0019t0001g0138	46	188	0.2447	-51	c.325 others(68): Show c.325+7913_325+7963delATAATAATGGACACGTGCTGTCACTCGG TGCAGGGTATGGAGAGCTCCTTG		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX4_chr3_125441650_125525202	125458830	AAAAAAAA others(44): Show AAAAAAAAAAAAAAAAGAAAAGAAAAGATTCTAATACAGCAATGCACAAA GT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	358	0.0028	-51	c.945 others(68): Show c.945-1516_945-1466delACTTTGTGCATTGCTGTATTAGAATCTT TTCTTTTCTTTTTTTTTTTTTTT		SNX4	ENSG00000114520.11	transcript	ENST00000251775.9	protein_coding	10/13						chr3	TogoVar
SORCS2_chr4_7187538_7747827	7387166	CACACATG others(44): Show CACACATGCCCACCATACACATGCACACATGCACACACAGATACACAGAA AT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG00642.hp2 others(27): Show HG00099.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG01106.hp1 HG01109.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp2 HG01891.hp2 HG02132.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02717.hp2 HG02922.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03579.hp1 HG04199.hp2 HG04228.hp2 NA19030.hp1 NA19043.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0014 a0016	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0016 a0001c0017 a0001c0037 a0001c0047 a0001c0049 a0001c0053 a0002c0004 a0003c0046 a0004c0007 a0005c0022 a0006c0008 a0007c0027 a0014c0052 a0016c0040	a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 others(25): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0036 a0001c0001t0048 a0001c0002t0003 a0001c0003t0009 a0001c0003t0050 a0001c0005t0001 a0001c0005t0005 a0001c0005t0006 a0001c0016t0001 a0001c0017t0002 a0001c0037t0017 a0001c0047t0057 a0001c0049t0001 a0001c0053t0001 a0002c0004t0004 a0003c0046t0001 a0004c0007t0001 a0004c0007t0014 a0005c0022t0033 a0006c0008t0001 a0007c0027t0002 a0014c0052t0003 a0016c0040t0003	a0001c0001t0004g0048 a0001c0001t0004g0098 a0001c0001t0005g0085 others(27): Show a0001c0001t0004g0048 a0001c0001t0004g0098 a0001c0001t0005g0085 a0001c0001t0009g0142 a0001c0001t0012g0047 a0001c0001t0013g0099 a0001c0001t0036g0106 a0001c0001t0048g0094 a0001c0002t0003g0018 a0001c0003t0009g0135 a0001c0003t0050g0005 a0001c0005t0001g0156 a0001c0005t0005g0102 a0001c0005t0006g0157 a0001c0016t0001g0009 a0001c0017t0002g0056 a0001c0037t0017g0017 a0001c0047t0057g0051 a0001c0049t0001g0059 a0001c0053t0001g0044 a0002c0004t0004g0095 a0003c0046t0001g0164 a0004c0007t0001g0026 a0004c0007t0014g0166 a0005c0022t0033g0153 a0006c0008t0001g0006 a0006c0008t0001g0029 a0007c0027t0002g0116 a0014c0052t0003g0030 a0016c0040t0003g0024	30	138	0.2174	-51	c.481 others(68): Show c.481-9116_481-9066delTGCCCACCATACACATGCACACATGCAC ACACAGATACACAGAAATACACA		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SOX6_chr11_15961449_16361546	16132294	GGAAGGAA others(44): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAAAAGA AA	G G	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18977.hp1 NA18980.hp2 others(1): Show NA18969.hp2 NA18977.hp1 NA18980.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0079 a0001c0001t0002g0084 a0001c0003t0002g0081 others(1): Show a0001c0001t0002g0079 a0001c0001t0002g0084 a0001c0003t0002g0081 a0001c0003t0002g0116	4	206	0.0194	-51	c.778 others(70): Show c.778-20422_778-20372delTTTCTTTTTTCTTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTC		SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15						chr11	TogoVar
SOX6_chr11_15961449_16361546	16132298	GGAAGGAA others(44): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAAAAGAAAGA AA	G G	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	208	0.0048	-51	c.778 others(70): Show c.778-20426_778-20376delTTTCTTTCTTTTTTCTTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTC		SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15						chr11	TogoVar
SPANXB1_chrX_140997594_141008706	141007690	AGAGCATA others(44): Show AGAGCATATTGCATCATTTTCTTCATGGCCAAGAAAATCAAGAATCACTG AT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	299	0.0033	-51	c.40 others(62): Show c.4039_*4089delGAGCATATTGCATCATTTTCTTCATGGCCAAGAA AATCAAGAATCACTGAT		SPANXB1	ENSG00000227234.2	transcript	ENST00000449283.2	protein_coding					3985		chrX	TogoVar
SPATA6_chr1_48290373_48477204	48381719	ATTGATCA others(44): Show ATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTAGCAGGGTCATA GG	A A	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	320	0.0031	-51	c.909 others(68): Show c.909+3539_909+3589delCCTATGACCCTGCTAAATCCCCCTCTGC GAGAAACACCCAAGAATGATCAA		SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12						chr1	TogoVar
SPIC_chr12_101470336_101491997	101478888	GCACTTTG others(44): Show GCACTTTGGGAAGCCAAGGTGGGTGGATCACTTGAGCCCAGGAGTTCAAG AC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG02698.hp2 HG00140.hp1 HG00323.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0086 a0001c0001t0001g0029 a0001c0001t0001g0086	3	396	0.0076	-51	c.98- others(64): Show c.98-691_98-641delCTTTGGGAAGCCAAGGTGGGTGGATCACTTGA GCCCAGGAGTTCAAGACCA		SPIC	ENSG00000166211.8	transcript	ENST00000551346.2	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr12	TogoVar
SPPL2B_chr19_2323684_2360095	2347532	ACACACTC others(44): Show ACACACTCACGCGCTCTCATTCGCTTGATGCCGTTCTCTCTCCACACACA CT	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0251 a0001c0001t0002g0251	1	411	0.0024	-51	c.135 others(70): Show c.1354+2206_1354+2256delACTCACGCGCTCTCATTCGCTTGATG CCGTTCTCTCTCCACACACACTCAC		SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTLC3_chr20_13003972_13174103	13167302	ATAATTAT others(44): Show ATAATTATATCATCAACCATTACCCTCTACATCACCGCCCCGACCTTAGC TC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01071.hp2 HG02015.hp2 HG02071.hp1 others(4): Show HG01071.hp2 HG02015.hp2 HG02071.hp1 HG02559.hp2 NA18956.hp1 NA18990.hp2 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0033 a0001c0001t0039 a0001c0001t0045 others(4): Show a0001c0001t0033 a0001c0001t0039 a0001c0001t0045 a0001c0001t0056 a0001c0001t0057 a0001c0004t0042 a0002c0002t0062	a0001c0001t0033g0045 a0001c0001t0039g0122 a0001c0001t0045g0163 others(4): Show a0001c0001t0033g0045 a0001c0001t0039g0122 a0001c0001t0045g0163 a0001c0001t0056g0253 a0001c0001t0057g0281 a0001c0004t0042g0185 a0002c0002t0062g0280	7	290	0.0241	-51	c.24 others(62): Show c.2447_*2497delTCAACCATTACCCTCTACATCACCGCCCCGACCT TAGCTCTAATTATATCA		SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	12/12				2447	INFO_REALIGN_3_PRIME	chr20	TogoVar
SRGAP2C_chr1_121179975_121397874	121396573	CGGCTTTT others(44): Show CGGCTTTTTGCCCCTCCGCCACCGCCGCTGCTTTTTGCCCCACCGCCGCC GT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	271	0.0037	-51	c.87 others(62): Show c.8719_*8769delGGCTTTTTGCCCCTCCGCCACCGCCGCTGCTTTT TGCCCCACCGCCGCCGT		SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding					3700		chr1	TogoVar
SSBP3_chr1_54220432_54411394	54240076	GTGTGTGT others(44): Show GTGTGTGTGTGTGCGCGCGCGCGCGTGTGCGTGCGCGCGCGCGCGCAACA CA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0123 a0001c0001t0005g0123	1	278	0.0036	-51	c.856 others(66): Show c.856+778_856+828delTGTGTTGCGCGCGCGCGCGCACGCACACGC GCGCGCGCGCACACACACACA		SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	13/17						chr1	TogoVar
ST6GAL2_chr2_106796600_106891167	106834520	AGCAAGGG others(44): Show AGCAAGGGCTGCTTTTTGGTGCTGGTGTATGCTTAAAAAGAAAGCCAGCC CT	A A	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0344 a0001c0001t0002g0344	1	370	0.0027	-51	c.944 others(66): Show c.944-425_944-375delAGGGCTGGCTTTCTTTTTAAGCATACACCA GCACCAAAAAGCAGCCCTTGC		ST6GAL2	ENSG00000144057.16	transcript	ENST00000409382.8	protein_coding	2/5						chr2	TogoVar
ST8SIA1_chr12_22188391_22339707	22320952	AGAAAGAG others(44): Show AGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02970.hp2 HG03453.hp1 others(1): Show HG02145.hp2 HG02970.hp2 HG03453.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0147 a0001c0001t0159 a0001c0001t0033 a0001c0001t0147 a0001c0001t0159	a0001c0001t0033g0087 a0001c0001t0033g0088 a0001c0001t0147g0089 others(1): Show a0001c0001t0033g0087 a0001c0001t0033g0088 a0001c0001t0147g0089 a0001c0001t0159g0057	4	279	0.0143	-51	c.236 others(70): Show c.236+12994_236+13044delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTCTTTC		ST8SIA1	ENSG00000111728.11	transcript	ENST00000396037.9	protein_coding	1/4						chr12	TogoVar
STON1_chr2_48525154_48603513	48564456	TTCTTCTT others(44): Show TTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCT TC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03195.hp2 HG02976.hp2 HG03195.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0012 a0004c0007t0001 a0004c0007t0012	a0004c0007t0001g0263 a0004c0007t0012g0265 a0004c0007t0001g0263 a0004c0007t0012g0265	2	374	0.0053	-51	c.-47 others(70): Show c.-47-16129_-47-16079delCTTCTTCTTCTTCTTCTTCTTCTTTC TTCTTCTTCTTCTTCTTCTTCTTCT		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STX2_chr12_130784600_130844250	130843368	ATATATAT others(44): Show ATATATATATTATATATATTATATATACATTATATATATAATATATATAA TT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG06807.hp2 HG02451.hp1 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0035 a0002c0002t0037 a0002c0002t0035 a0002c0002t0037	a0002c0002t0035g0313 a0002c0002t0037g0312 a0002c0002t0035g0313 a0002c0002t0037g0312	2	378	0.0053	-51	c.-43 others(62): Show c.-4320_-4270delAATTATATATATTATATATATAATGTATATATAA TATATATAATATATATA		STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding					4119		chr12	TogoVar
SUFU_chr10_102498972_102638535	102568892	AAAAAAAT others(44): Show AAAAAAATATATATATATATATATATATACACATATATATATATATATAT AT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01346.hp2 HG00733.hp1 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0154 a0001c0001t0021g0153 a0001c0001t0001g0154 a0001c0001t0021g0153	2	240	0.0083	-51	c.454 others(70): Show c.454+18788_454+18838delAAAAATATATATATATATATATATAT ACACATATATATATATATATATATA		SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr10	TogoVar
SULT4A1_chr22_43819509_43867513	43822742	AGTGTGTG others(44): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTCAGTGCTATGGCAAGAAGTGTGT GT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02970.hp2 HG02135.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0252 a0001c0001t0004g0102 a0001c0001t0002g0252 a0001c0001t0004g0102	2	118	0.0169	-51	c.32 others(62): Show c.3208_*3258delACACACACTTCTTGCCATAGCACTGACACACACA CACACACACACACACAC		SULT4A1	ENSG00000130540.14	transcript	ENST00000330884.9	protein_coding					1766		chr22	TogoVar
SUPT20HL2_chrX_24303210_24319069	24311767	AAGCAGGA others(44): Show AAGCAGGAGCAGCAGCAGGAGCAGGAGCAGGAGCAGGAGCAGCAGCAGCT AC	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01928.hp1 HG01928.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0001 a0012c0017t0001	a0012c0017t0001g0000 a0012c0017t0001g0000	1	285	0.0035	-51	c.149 others(60): Show c.1498_1548delGTAGCTGCTGCTGCTCCTGCTCCTGCTCCTGCTCCT GCTGCTGCTCCTGCT	p.Val others(13): Show p.Val500_Ala516del	SUPT20HL2	ENSG00000223611.7	transcript	ENST00000486479.3	protein_coding	1/1	2302/5860	1498/2454	500/817			chrX	TogoVar
SYNE3_chr14_95402266_95521650	95423552	CATGGGGA others(44): Show CATGGGGATTTGATGGGGATGAGGATTTGGTAGGCATGGGGATTTGATGG GG	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02451.hp2 HG03195.hp1 others(6): Show HG02040.hp1 HG02451.hp2 HG03195.hp1 HG03654.hp2 HG03704.hp2 HG04199.hp2 HG04228.hp2 NA18975.hp1 NA19065.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0014	a0001c0001 a0001c0019 a0001c0039 others(4): Show a0001c0001 a0001c0019 a0001c0039 a0004c0003 a0004c0083 a0005c0010 a0014c0030	a0001c0001t0001 a0001c0001t0049 a0001c0001t0208 others(6): Show a0001c0001t0001 a0001c0001t0049 a0001c0001t0208 a0001c0019t0098 a0001c0039t0119 a0004c0003t0111 a0004c0083t0004 a0005c0010t0049 a0014c0030t0176	a0001c0001t0001g0261 a0001c0001t0049g0023 a0001c0001t0208g0011 others(6): Show a0001c0001t0001g0261 a0001c0001t0049g0023 a0001c0001t0208g0011 a0001c0019t0098g0103 a0001c0039t0119g0052 a0004c0003t0111g0143 a0004c0083t0004g0010 a0005c0010t0049g0155 a0014c0030t0176g0076	9	264	0.0341	-51	c.272 others(70): Show c.2728-5577_2728-5527delCCCCATCAAATCCCCATGCCTACCAA ATCCTCATCCCCATCAAATCCCCAT		SYNE3	ENSG00000176438.13	transcript	ENST00000682763.1	protein_coding	17/17						chr14	TogoVar
SYNE3_chr14_95402266_95521650	95423862	GGGATTTG others(44): Show GGGATTTGATGGGGATGGGGTTTTGATGGGGATGGGGATTTGATGGGGAT GA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG02056.hp1 others(2): Show HG01070.hp2 HG01071.hp1 HG02056.hp1 NA18948.hp2 NA18999.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0077 a0004c0005 a0006c0013 others(1): Show a0001c0077 a0004c0005 a0006c0013 a0006c0025	a0001c0077t0104 a0004c0005t0105 a0006c0013t0154 others(1): Show a0001c0077t0104 a0004c0005t0105 a0006c0013t0154 a0006c0025t0055	a0001c0077t0104g0132 a0004c0005t0105g0116 a0006c0013t0154g0324 others(2): Show a0001c0077t0104g0132 a0004c0005t0105g0116 a0006c0013t0154g0324 a0006c0025t0055g0160 a0006c0025t0055g0161	5	381	0.0131	-51	c.272 others(70): Show c.2728-5887_2728-5837delTCATCCCCATCAAATCCCCATCCCCA TCAAAACCCCATCCCCATCAAATCC		SYNE3	ENSG00000176438.13	transcript	ENST00000682763.1	protein_coding	17/17						chr14	TogoVar
SYNE3_chr14_95402266_95521650	95423865	ATTTGATG others(44): Show ATTTGATGGGGATGGGGTTTTGATGGGGATGGGGATTTGATGGGGATGAG GA	A A	intron_variant intron_variant	MODIFIER	HG01993.hp2 NA18942.hp1 NA18946.hp1 others(5): Show HG01993.hp2 NA18942.hp1 NA18946.hp1 NA18974.hp2 NA18980.hp2 NA18991.hp2 NA19060.hp1 NA19082.hp1	a0004 a0005 a0006 a0004 a0005 a0006	a0004c0003 a0004c0005 a0005c0009 others(1): Show a0004c0003 a0004c0005 a0005c0009 a0006c0016	a0004c0003t0013 a0004c0005t0019 a0005c0009t0013 others(2): Show a0004c0003t0013 a0004c0005t0019 a0005c0009t0013 a0006c0016t0026 a0006c0016t0096	a0004c0003t0013g0120 a0004c0003t0013g0179 a0004c0005t0019g0205 others(5): Show a0004c0003t0013g0120 a0004c0003t0013g0179 a0004c0005t0019g0205 a0005c0009t0013g0201 a0006c0016t0026g0056 a0006c0016t0026g0117 a0006c0016t0026g0167 a0006c0016t0096g0061	8	244	0.0328	-51	c.272 others(70): Show c.2728-5890_2728-5840delTCCTCATCCCCATCAAATCCCCATCC CCATCAAAACCCCATCCCCATCAAA		SYNE3	ENSG00000176438.13	transcript	ENST00000682763.1	protein_coding	17/17						chr14	TogoVar
SYNE3_chr14_95402266_95521650	95423879	GGGTTTTG others(44): Show GGGTTTTGATGGGGATGGGGATTTGATGGGGATGAGGATTTGATGGGGAT GG	G G	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG03225.hp2 NA18948.hp1 HG02080.hp2 HG03225.hp2 NA18948.hp1	a0006 a0027 a0006 a0027	a0006c0016 a0006c0018 a0027c0074 a0006c0016 a0006c0018 a0027c0074	a0006c0016t0158 a0006c0018t0004 a0027c0074t0117 a0006c0016t0158 a0006c0018t0004 a0027c0074t0117	a0006c0016t0158g0243 a0006c0018t0004g0113 a0027c0074t0117g0359 a0006c0016t0158g0243 a0006c0018t0004g0113 a0027c0074t0117g0359	3	283	0.0106	-51	c.272 others(70): Show c.2728-5904_2728-5854delCCATCCCCATCAAATCCTCATCCCCA TCAAATCCCCATCCCCATCAAAACC		SYNE3	ENSG00000176438.13	transcript	ENST00000682763.1	protein_coding	17/17						chr14	TogoVar
SYNJ2_chr6_157976863_158104176	158095350	TCTGATTA others(44): Show TCTGATTATTTACTGTGGCCCTGGTTTTAAATTTTCCACTCGTTTTCATT GG	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0036 a0002c0036	a0002c0036t0025 a0002c0036t0025	a0002c0036t0025g0033 a0002c0036t0025g0033	1	310	0.0032	-51	c.374 others(68): Show c.3745-267_3745-217delCTGATTATTTACTGTGGCCCTGGTTTTA AATTTTCCACTCGTTTTCATTGG		SYNJ2	ENSG00000078269.15	transcript	ENST00000355585.9	protein_coding	26/26						chr6	TogoVar
SYNPR_chr3_63273308_63621924	63408177	AGAAAGAA others(44): Show AGAAAGAAAGAAAGAAAGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0106 a0001c0001t0008g0106	1	246	0.0041	-51	c.85- others(68): Show c.85-72636_85-72586delGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAAGAAAGAAAGAAAGA		SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
SYT17_chr16_19163240_19273332	19252391	ATACATAT others(44): Show ATACATATATATACATATATATATACATATATATATACATATATATACAT AT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp1 HG02572.hp2 others(2): Show HG02257.hp1 HG02559.hp1 HG02572.hp2 HG03098.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 others(1): Show a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0058	a0001c0001t0006g0083 a0001c0001t0010g0226 a0001c0001t0012g0006 others(2): Show a0001c0001t0006g0083 a0001c0001t0010g0226 a0001c0001t0012g0006 a0001c0001t0012g0046 a0001c0001t0058g0041	5	74	0.0676	-51	c.122 others(72): Show c.1229-14488_1229-14438delTACATATATATACATATATATATA CATATATATATACATATATATACATAT		SYT17	ENSG00000103528.17	transcript	ENST00000355377.7	protein_coding	7/7						chr16	TogoVar
SYTL3_chr6_158645054_158769871	158704814	AGTGACAG others(44): Show AGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCCAGGGCA GG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00408.hp2 others(97): Show HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01175.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02132.hp1 HG02148.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02735.hp1 HG02738.hp2 HG03017.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18956.hp1 NA18956.hp2 NA18963.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18982.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA19002.hp2 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19084.hp1 NA19084.hp2 NA20752.hp1 NA20805.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0009 a0010	a0001c0001 a0001c0012 a0002c0002 others(5): Show a0001c0001 a0001c0012 a0002c0002 a0003c0004 a0003c0006 a0004c0003 a0009c0015 a0010c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0012t0001 a0002c0002t0001 a0002c0002t0006 a0002c0002t0007 a0002c0002t0012 a0003c0004t0005 a0003c0006t0001 a0004c0003t0001 a0004c0003t0003 a0009c0015t0001 a0010c0018t0001	a0001c0001t0001g0041 a0001c0001t0001g0055 a0001c0001t0001g0084 others(97): Show a0001c0001t0001g0041 a0001c0001t0001g0055 a0001c0001t0001g0084 a0001c0001t0001g0104 a0001c0001t0001g0139 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0288 a0001c0001t0003g0100 a0001c0001t0003g0136 a0001c0001t0009g0077 a0001c0001t0010g0287 a0001c0012t0001g0137 a0002c0002t0001g0012 a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0039 a0002c0002t0001g0061 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0078 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0085 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0092 a0002c0002t0001g0096 a0002c0002t0001g0101 a0002c0002t0001g0103 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0116 a0002c0002t0001g0135 a0002c0002t0001g0141 a0002c0002t0001g0143 a0002c0002t0001g0150 a0002c0002t0001g0154 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0177 a0002c0002t0001g0179 a0002c0002t0001g0205 a0002c0002t0001g0216 a0002c0002t0001g0227 a0002c0002t0001g0241 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0249 a0002c0002t0001g0267 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0006g0093 a0002c0002t0006g0094 a0002c0002t0007g0115 a0002c0002t0012g0110 a0003c0004t0005g0209 a0003c0006t0001g0043 a0003c0006t0001g0064 a0003c0006t0001g0138 a0004c0003t0001g0040 a0004c0003t0001g0090 a0004c0003t0001g0091 a0004c0003t0001g0095 a0004c0003t0001g0149 a0004c0003t0001g0175 a0004c0003t0001g0231 a0004c0003t0003g0206 a0009c0015t0001g0130 a0010c0018t0001g0079	100	232	0.4310	-51	c.395 others(68): Show c.395-2270_395-2220delAGGGCAGGGTGACAGTGAGGGCTGTAAG GCCACATAGGGCAGGAGGGACCC		SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17					INFO_REALIGN_3_PRIME	chr6	TogoVar
SYTL3_chr6_158645054_158769871	158704960	AGGGCAGG others(44): Show AGGGCAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACC CG	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0122 a0004c0003t0001g0123 a0004c0003t0001g0122 a0004c0003t0001g0123	2	237	0.0084	-51	c.395 others(68): Show c.395-2196_395-2146delGTAAGGCCACATAGGGCAGGAGGGACCC GGGGCAGGGTGACAGTGAGGGCT		SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17					INFO_REALIGN_3_PRIME	chr6	TogoVar
SYTL3_chr6_158645054_158769871	158705117	ACAGGGTG others(44): Show ACAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCCAG GG	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0151 a0002c0002t0001g0151	1	288	0.0035	-51	c.395 others(68): Show c.395-2066_395-2016delCAGGGCAGGGTGACAGTGAGGGCTGTAA GGCCACATAGGGCAGGAGGGACC		SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17					INFO_REALIGN_3_PRIME	chr6	TogoVar
TACR3_chr4_103581031_103724985	103650673	TATATTAT others(44): Show TATATTATATCATATATAATATATATTTATATATATAAATATATATAAAT AA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00423.hp2 others(55): Show HG00099.hp1 HG00280.hp2 HG00423.hp2 HG00609.hp2 HG00673.hp2 HG01071.hp1 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01928.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02055.hp2 HG02080.hp2 HG02129.hp2 HG02145.hp1 HG02155.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp2 HG02723.hp1 HG02886.hp2 HG02922.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03491.hp2 HG04184.hp1 HG04199.hp2 NA18522.hp1 NA18941.hp1 NA18950.hp2 NA18959.hp2 NA18963.hp2 NA18971.hp2 NA18978.hp1 NA18983.hp1 NA18984.hp2 NA19004.hp1 NA19011.hp1 NA19066.hp1 NA19066.hp2 NA19080.hp1 NA19085.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0024 a0001c0001t0036 a0001c0001t0043 a0001c0001t0045 a0001c0002t0002	a0001c0001t0001g0017 a0001c0001t0001g0108 a0001c0001t0001g0129 others(54): Show a0001c0001t0001g0017 a0001c0001t0001g0108 a0001c0001t0001g0129 a0001c0001t0002g0003 a0001c0001t0002g0185 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0005g0183 a0001c0001t0005g0190 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0231 a0001c0001t0005g0236 a0001c0001t0006g0248 a0001c0001t0006g0249 a0001c0001t0007g0133 a0001c0001t0008g0250 a0001c0001t0008g0251 a0001c0001t0008g0252 a0001c0001t0009g0137 a0001c0001t0009g0152 a0001c0001t0009g0253 a0001c0001t0009g0255 a0001c0001t0009g0256 a0001c0001t0009g0258 a0001c0001t0010g0132 a0001c0001t0011g0156 a0001c0001t0011g0205 a0001c0001t0011g0206 a0001c0001t0011g0207 a0001c0001t0024g0271 a0001c0001t0024g0272 a0001c0001t0036g0266 a0001c0001t0043g0226 a0001c0001t0045g0273 a0001c0002t0002g0213	58	278	0.2086	-51	c.888 others(68): Show c.888+5470_888+5520delTTATTTATATATATTTATATATATAAAT ATATATTATATATGATATAATAT		TACR3	ENSG00000169836.5	transcript	ENST00000304883.3	protein_coding	3/4						chr4	TogoVar
TACR3_chr4_103581031_103724985	103650681	ATCATATA others(44): Show ATCATATATAATATATATTTATATATATAAATATATATAAATAAATATAT AT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0151 a0001c0001t0008g0151	1	275	0.0036	-51	c.888 others(68): Show c.888+5462_888+5512delATATATATTTATTTATATATATTTATAT ATATAAATATATATTATATATGA		TACR3	ENSG00000169836.5	transcript	ENST00000304883.3	protein_coding	3/4						chr4	TogoVar
TAF4B_chr18_26221445_26396685	26303044	TCCTCCAC others(44): Show TCCTCCACTTTCATACCCGCTCCACTTTCATACCCCCTCCACTTTCATAC TC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0010 a0010	a0010c0022 a0010c0022	a0010c0022t0002 a0010c0022t0002	a0010c0022t0002g0189 a0010c0022t0002g0189	1	189	0.0053	-51	c.183 others(70): Show c.1832+9531_1832+9581delGCTCCACTTTCATACCCCCTCCACTT TCATACTCCCTCCACTTTCATACCC		TAF4B	ENSG00000141384.13	transcript	ENST00000269142.10	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr18	TogoVar
TAFA1_chr3_67999247_68550621	68418418	CTTAAGGG others(44): Show CTTAAGGGAAGGACCGGCCATTTTCACTTCTTTTGTGGTGGAATATCATC AG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00639.hp1 others(65): Show HG00099.hp2 HG00544.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG01070.hp2 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01981.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02886.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp2 HG03834.hp2 HG04184.hp2 HG04228.hp2 NA18522.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18954.hp2 NA18968.hp1 NA18989.hp1 NA18994.hp1 NA19009.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA20129.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023	a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 others(65): Show a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0081 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0023 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0039 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0063 a0001c0001t0004g0068 a0001c0001t0004g0095 a0001c0001t0004g0104 a0001c0001t0004g0117 a0001c0001t0004g0119 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0005g0026 a0001c0001t0005g0057 a0001c0001t0005g0060 a0001c0001t0006g0084 a0001c0001t0006g0087 a0001c0001t0006g0099 a0001c0001t0008g0008 a0001c0001t0009g0036 a0001c0001t0009g0153 a0001c0001t0011g0103 a0001c0001t0013g0133 a0001c0001t0016g0013 a0001c0001t0017g0155 a0001c0001t0019g0054 a0001c0001t0021g0003 a0001c0001t0023g0004	68	156	0.4359	-51	c.259 others(68): Show c.259+1005_259+1055delGAAGGACCGGCCATTTTCACTTCTTTTG TGGTGGAATATCATCAGTTAAGG		TAFA1	ENSG00000183662.12	transcript	ENST00000478136.6	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr3	TogoVar

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