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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SMAD2_chr18_47803957_47935659	47919466	AAATACAC others(8): Show AAATACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03195.hp2 HG02559.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0241 a0001c0001t0242 a0001c0001t0241 a0001c0001t0242	a0001c0001t0241g0007 a0001c0001t0242g0006 a0001c0001t0241g0007 a0001c0001t0242g0006	2	296	0.0068	-15	c.-54 others(34): Show c.-54+10880_-54+10894delGTGTGTGTGTGTATT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	1/10			chr18	TogoVar
SMAD3_chr15_67060602_67200169	67160770	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00408.hp2 others(99): Show HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp2 HG01070.hp2 HG01081.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp2 HG01516.hp1 HG01891.hp2 HG01943.hp1 HG01978.hp1 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02074.hp2 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18971.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18983.hp1 NA18989.hp2 NA18991.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19058.hp1 NA19058.hp2 NA19066.hp2 NA19081.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0029 a0001c0001t0031 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0042 a0001c0001t0048 a0001c0001t0050 a0001c0001t0056 a0001c0002t0003 a0001c0002t0005 a0001c0002t0011 a0001c0002t0015 a0001c0002t0024 a0001c0002t0027 a0001c0002t0046 a0001c0002t0051 a0002c0003t0004	a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0111 others(99): Show a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0111 a0001c0001t0001g0128 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0180 a0001c0001t0001g0188 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0226 a0001c0001t0001g0240 a0001c0001t0001g0265 a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0001t0002g0074 a0001c0001t0002g0087 a0001c0001t0002g0113 a0001c0001t0002g0138 a0001c0001t0002g0149 a0001c0001t0002g0173 a0001c0001t0002g0206 a0001c0001t0002g0228 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0253 a0001c0001t0002g0275 a0001c0001t0003g0006 a0001c0001t0003g0118 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0175 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0276 a0001c0001t0003g0282 a0001c0001t0004g0007 a0001c0001t0004g0132 a0001c0001t0004g0213 a0001c0001t0005g0033 a0001c0001t0005g0061 a0001c0001t0006g0010 a0001c0001t0006g0014 a0001c0001t0006g0039 a0001c0001t0006g0069 a0001c0001t0007g0058 a0001c0001t0007g0186 a0001c0001t0007g0189 a0001c0001t0007g0210 a0001c0001t0007g0232 a0001c0001t0007g0278 a0001c0001t0008g0044 a0001c0001t0008g0046 a0001c0001t0008g0047 a0001c0001t0009g0034 a0001c0001t0009g0041 a0001c0001t0009g0072 a0001c0001t0010g0116 a0001c0001t0010g0120 a0001c0001t0010g0264 a0001c0001t0012g0026 a0001c0001t0012g0027 a0001c0001t0013g0177 a0001c0001t0013g0179 a0001c0001t0013g0209 a0001c0001t0015g0029 a0001c0001t0015g0048 a0001c0001t0016g0005 a0001c0001t0016g0217 a0001c0001t0016g0283 a0001c0001t0017g0045 a0001c0001t0017g0073 a0001c0001t0018g0068 a0001c0001t0019g0216 a0001c0001t0020g0284 a0001c0001t0021g0152 a0001c0001t0021g0159 a0001c0001t0022g0158 a0001c0001t0025g0165 a0001c0001t0025g0166 a0001c0001t0029g0057 a0001c0001t0031g0079 a0001c0001t0034g0028 a0001c0001t0036g0056 a0001c0001t0037g0067 a0001c0001t0038g0070 a0001c0001t0042g0221 a0001c0001t0048g0147 a0001c0001t0050g0227 a0001c0001t0056g0201 a0001c0002t0003g0125 a0001c0002t0003g0136 a0001c0002t0003g0184 a0001c0002t0005g0031 a0001c0002t0011g0103 a0001c0002t0015g0032 a0001c0002t0024g0243 a0001c0002t0027g0097 a0001c0002t0046g0081 a0001c0002t0051g0176 a0002c0003t0004g0145	102	104	0.9808	-15	c.207 others(32): Show c.207-4097_207-4083delAAAAAAAAAAAAAAA	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD3_chr15_67060602_67200169	67196177	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18991.hp1 NA18747.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0024 a0001c0002t0024 a0001c0001t0024 a0001c0002t0024	a0001c0001t0024g0141 a0001c0002t0024g0243 a0001c0001t0024g0141 a0001c0002t0024g0243	2	308	0.0065	-15	c.56 others(26): Show c.5642_*5656delAAAAAAAAAAAAAAG	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding		1009		chr15	TogoVar
SMAD4_chr18_51025213_51090042	51064104	TTTGTTGA others(8): Show TTTGTTGAAAGTAAGA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0262 a0001c0001t0050g0262	1	300	0.0033	-15	c.956 others(32): Show c.956-1307_956-1293delAAGATTGTTGAAAGT	SMAD4	ENSG00000141646.16	transcript	ENST00000342988.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMAD5_chr5_136127845_136187733	136165662	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 NA19056.hp1 others(2): Show HG02895.hp2 HG02897.hp1 NA19056.hp1 NA19068.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0016 a0001c0001t0012 a0001c0001t0016	a0001c0001t0012g0036 a0001c0001t0012g0037 a0001c0001t0012g0038 others(2): Show a0001c0001t0012g0036 a0001c0001t0012g0037 a0001c0001t0012g0038 a0001c0001t0016g0077 a0001c0001t0016g0078	5	67	0.0746	-15	c.775 others(32): Show c.775+2294_775+2308delTTTTTTTTTTTTTTT	SMAD5	ENSG00000113658.18	transcript	ENST00000545279.6	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
SMAD6_chr15_66697236_66787849	66767959	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0226 a0001c0001t0005g0226	1	50	0.0200	-15	c.953 others(34): Show c.953-13025_953-13011delTTTTTTTTTTTTTTT	SMAD6	ENSG00000137834.15	transcript	ENST00000288840.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD6_chr15_66697236_66787849	66774833	ATTTATTT others(8): Show ATTTATTTTATTTTAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00639.hp1 HG00642.hp2 others(80): Show HG00597.hp2 HG00639.hp1 HG00642.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01346.hp1 HG01433.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02109.hp1 HG02257.hp1 HG02280.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03831.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18951.hp2 NA18952.hp2 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18989.hp1 NA18993.hp2 NA18999.hp1 NA19009.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19062.hp1 NA19063.hp2 NA19077.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0001c0003 a0001c0012 others(3): Show a0001c0001 a0001c0003 a0001c0012 a0001c0013 a0006c0014 a0007c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0028 a0001c0001t0031 a0001c0003t0007 a0001c0012t0001 a0001c0013t0020 a0006c0014t0001 a0007c0020t0001	a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0016 others(79): Show a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0067 a0001c0001t0001g0101 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0175 a0001c0001t0001g0184 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0295 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0002g0292 a0001c0001t0004g0033 a0001c0001t0004g0047 a0001c0001t0004g0058 a0001c0001t0004g0062 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0076 a0001c0001t0004g0081 a0001c0001t0004g0082 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0005g0014 a0001c0001t0005g0205 a0001c0001t0005g0206 a0001c0001t0005g0207 a0001c0001t0005g0211 a0001c0001t0005g0214 a0001c0001t0005g0225 a0001c0001t0005g0227 a0001c0001t0005g0230 a0001c0001t0005g0239 a0001c0001t0005g0246 a0001c0001t0005g0253 a0001c0001t0005g0259 a0001c0001t0007g0265 a0001c0001t0010g0195 a0001c0001t0010g0196 a0001c0001t0010g0310 a0001c0001t0010g0311 a0001c0001t0010g0313 a0001c0001t0012g0199 a0001c0001t0028g0268 a0001c0001t0031g0264 a0001c0003t0007g0272 a0001c0003t0007g0281 a0001c0003t0007g0289 a0001c0012t0001g0164 a0001c0013t0020g0154 a0006c0014t0001g0165 a0007c0020t0001g0318	83	209	0.3971	-15	c.953 others(32): Show c.953-6135_953-6121delATTTTATTTTATTTT	SMAD6	ENSG00000137834.15	transcript	ENST00000288840.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD7_chr18_48914853_48955965	48936102	ACACACAC others(8): Show ACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01258.hp1 HG02451.hp1 others(6): Show HG01243.hp2 HG01258.hp1 HG02451.hp1 HG02809.hp2 HG02895.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0025 a0001c0014t0018	a0001c0001t0001g0088 a0001c0001t0001g0131 a0001c0001t0004g0050 others(6): Show a0001c0001t0001g0088 a0001c0001t0001g0131 a0001c0001t0004g0050 a0001c0001t0005g0181 a0001c0001t0005g0217 a0001c0001t0005g0218 a0001c0001t0008g0095 a0001c0001t0025g0132 a0001c0014t0018g0057	9	396	0.0227	-15	c.742 others(32): Show c.742+6364_742+6378delGTGTGTGTGTGTGTG	SMAD7	ENSG00000101665.10	transcript	ENST00000262158.8	protein_coding	3/3			chr18	TogoVar
SMAD9_chr13_36839831_36925238	36887214	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0237 a0001c0001t0011g0237	1	144	0.0069	-15	c.-18 others(34): Show c.-186-7354_-186-7340delAAAAAAAAAAAAAAA	SMAD9	ENSG00000120693.15	transcript	ENST00000379826.5	protein_coding	1/6			chr13	TogoVar
SMAD9_chr13_36839831_36925238	36905774	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp1 HG00741.hp2 others(25): Show HG00140.hp1 HG00738.hp1 HG00741.hp2 HG01106.hp2 HG01168.hp1 HG01255.hp1 HG01261.hp1 HG01496.hp1 HG02055.hp2 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02647.hp2 HG03490.hp1 HG03579.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp2 HG04199.hp2 NA18522.hp2 NA18974.hp2 NA19030.hp2 NA19043.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0027 a0001c0001t0028 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0074	a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 others(25): Show a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0313 a0001c0001t0001g0343 a0001c0001t0003g0087 a0001c0001t0009g0265 a0001c0001t0011g0232 a0001c0001t0011g0249 a0001c0001t0011g0252 a0001c0001t0014g0239 a0001c0001t0015g0240 a0001c0001t0015g0241 a0001c0001t0015g0342 a0001c0001t0017g0242 a0001c0001t0021g0167 a0001c0001t0027g0339 a0001c0001t0027g0340 a0001c0001t0028g0247 a0001c0001t0034g0334 a0001c0001t0035g0271 a0001c0001t0036g0338 a0001c0001t0074g0229	28	48	0.5833	-15	c.-18 others(36): Show c.-187+14327_-187+14341delTTTTTTTTTTTTTTT	SMAD9	ENSG00000120693.15	transcript	ENST00000379826.5	protein_coding	1/6			chr13	TogoVar
SMAD9_chr13_36839831_36925238	36920184	AGCAGCGG others(8): Show AGCAGCGGCGGCGGCG	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0209 a0001c0001t0010g0209	1	333	0.0030	-15	c.-27 others(24): Show c.-270_-256delCGCCGCCGCCGCTGC	SMAD9	ENSG00000120693.15	transcript	ENST00000379826.5	protein_coding	1/7	40496		chr13	TogoVar
SMAGP_chr12_51239558_51275415	51248900	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp1 HG02258.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0028 a0001c0002t0029 a0001c0001t0028 a0001c0002t0029	a0001c0001t0028g0261 a0001c0002t0029g0254 a0001c0001t0028g0261 a0001c0002t0029g0254	2	15	0.1333	-15	c.35- others(30): Show c.35-2084_35-2070delTTTTTTTTTTTTTTT	SMAGP	ENSG00000170545.17	transcript	ENST00000603798.6	protein_coding	2/3			chr12	TogoVar
SMAP1_chr6_70662883_70867003	70682170	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA18947.hp2 NA18949.hp1 others(8): Show HG00099.hp1 NA18947.hp2 NA18949.hp1 NA18960.hp2 NA18970.hp1 NA18982.hp1 NA18994.hp2 NA19009.hp2 NA19057.hp2 NA19064.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0211 others(8): Show a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0003g0039 a0001c0001t0003g0045	11	49	0.2245	-15	c.118 others(34): Show c.118+14051_118+14065delTTTTTTTTTTTTTTT	SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMARCA1_chrX_129441506_129528490	129479653	ATATTTTA others(8): Show ATATTTTATTTTATTT	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	73	0.0137	-15	c.244 others(34): Show c.2442+1033_2442+1047delAAATAAAATAAAATA	SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	19/24			chrX	TogoVar
SMARCA2_chr9_2010347_2198620	2060118	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0250 a0003c0007t0002g0250	1	69	0.0145	-15	c.152 others(32): Show c.1522-680_1522-666delAAAAAAAAAAAAAAA	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	8/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA2_chr9_2010347_2198620	2155720	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 NA18975.hp1 NA18995.hp2 HG01069.hp1 NA18975.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0076 a0001c0001t0001g0147 a0001c0009t0001g0048 a0001c0001t0001g0076 a0001c0001t0001g0147 a0001c0009t0001g0048	3	39	0.0769	-15	c.398 others(34): Show c.3982-5942_3982-5928delTTTTTTTTTTTTTTT	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	27/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA2_chr9_2010347_2198620	2156414	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA19088.hp2 HG02109.hp1 NA19088.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0002 a0001c0001t0001 a0003c0006t0002	a0001c0001t0001g0082 a0003c0006t0002g0310 a0001c0001t0001g0082 a0003c0006t0002g0310	2	14	0.1429	-15	c.398 others(34): Show c.3982-5254_3982-5240delTTTTTTTTTTTTTTT	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	27/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA2_chr9_2010347_2198620	2188684	TTAATACA others(8): Show TTAATACAACACAAAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0005 a0005	a0005c0021 a0005c0021	a0005c0021t0002 a0005c0021t0002	a0005c0021t0002g0235 a0005c0021t0002g0235	1	314	0.0032	-15	c.459 others(34): Show c.4594+2458_4594+2472delAATACAACACAAACT	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	32/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCAL1_chr2_216407484_216488053	216420033	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0161 a0003c0004t0001g0161	1	406	0.0025	-15	c.863 others(30): Show c.863-253_863-239delAAGAAAAAAAAAAAA	SMARCAL1	ENSG00000138375.14	transcript	ENST00000357276.9	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
SMARCB1_chr22_23781966_23843009	23795670	AAAATAAA others(8): Show AAAATAAAAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01257.hp2 others(19): Show HG01167.hp1 HG01169.hp1 HG01257.hp2 HG01346.hp1 HG01891.hp2 HG02258.hp2 HG02451.hp1 HG02572.hp1 HG02615.hp1 HG02630.hp2 HG02717.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp2 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 others(8): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0028 a0001c0001t0035 a0001c0001t0036 a0001c0001t0048 a0001c0001t0049	a0001c0001t0005g0027 a0001c0001t0005g0038 a0001c0001t0009g0044 others(18): Show a0001c0001t0005g0027 a0001c0001t0005g0038 a0001c0001t0009g0044 a0001c0001t0013g0005 a0001c0001t0013g0028 a0001c0001t0013g0029 a0001c0001t0013g0030 a0001c0001t0013g0031 a0001c0001t0013g0032 a0001c0001t0013g0033 a0001c0001t0016g0006 a0001c0001t0016g0036 a0001c0001t0016g0037 a0001c0001t0017g0005 a0001c0001t0020g0039 a0001c0001t0020g0041 a0001c0001t0028g0043 a0001c0001t0035g0040 a0001c0001t0036g0042 a0001c0001t0048g0035 a0001c0001t0049g0034	22	362	0.0608	-15	c.362 others(32): Show c.362+1997_362+2011delTAAATAAAAAATAAA	SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
SMARCB1_chr22_23781966_23843009	23822957	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02055.hp2 HG02109.hp2 others(17): Show HG01433.hp1 HG02055.hp2 HG02109.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02622.hp1 HG02717.hp2 HG02818.hp1 HG02896.hp1 HG02970.hp1 HG02970.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0018 a0001c0001t0023 others(3): Show a0001c0001t0009 a0001c0001t0018 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028	a0001c0001t0009g0044 a0001c0001t0009g0320 a0001c0001t0009g0321 others(17): Show a0001c0001t0009g0044 a0001c0001t0009g0320 a0001c0001t0009g0321 a0001c0001t0009g0322 a0001c0001t0009g0323 a0001c0001t0009g0324 a0001c0001t0009g0325 a0001c0001t0009g0326 a0001c0001t0009g0329 a0001c0001t0009g0335 a0001c0001t0009g0336 a0001c0001t0018g0104 a0001c0001t0018g0113 a0001c0001t0018g0293 a0001c0001t0023g0249 a0001c0001t0023g0327 a0001c0001t0024g0331 a0001c0001t0025g0333 a0001c0001t0025g0334 a0001c0001t0028g0043	20	195	0.1026	-15	c.796 others(32): Show c.796-2241_796-2227delTTTTTTTTTTTTTTT	SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
SMARCB1_chr22_23781966_23843009	23822984	TTTTTTTT others(8): Show TTTTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp2 HG02895.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0237 a0001c0001t0011g0241 a0001c0001t0011g0237 a0001c0001t0011g0241	2	362	0.0055	-15	c.796 others(32): Show c.796-2240_796-2226delTTTTTTTTTTTTTTG	SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding	6/8			chr22	TogoVar
SMARCC1_chr3_47580269_47786893	47740178	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02040.hp2 HG03041.hp2 HG01934.hp2 HG02040.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0003g0044 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0003g0044	3	45	0.0667	-15	c.402 others(32): Show c.402-2083_402-2069delAAAAAAAAAAAAAAA	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	3/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47755989	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp2 HG02145.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0181 a0001c0001t0001g0084 a0001c0001t0001g0181	2	59	0.0339	-15	c.316 others(33): Show c.316-10011_316-9997delTTTTTTTTTTTTTTT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	2/27			chr3	TogoVar
SMC1B_chr22_45339063_45418599	45364824	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00438.hp1 others(98): Show HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02109.hp1 HG02135.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02602.hp1 HG02735.hp1 HG02738.hp2 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG04115.hp2 HG04228.hp2 NA18612.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19011.hp2 NA19012.hp2 NA19054.hp1 NA19056.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19074.hp1 NA19077.hp2 NA19080.hp2 NA19082.hp2 NA19087.hp2 NA20300.hp2 NA20905.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0001 a0002c0019 others(1): Show a0001c0002 a0002c0001 a0002c0019 a0004c0005	a0001c0002t0001 a0002c0001t0002 a0002c0001t0006 others(2): Show a0001c0002t0001 a0002c0001t0002 a0002c0001t0006 a0002c0019t0002 a0004c0005t0001	a0001c0002t0001g0110 a0002c0001t0002g0002 a0002c0001t0002g0006 others(89): Show a0001c0002t0001g0110 a0002c0001t0002g0002 a0002c0001t0002g0006 a0002c0001t0002g0007 a0002c0001t0002g0008 a0002c0001t0002g0009 a0002c0001t0002g0010 a0002c0001t0002g0011 a0002c0001t0002g0022 a0002c0001t0002g0071 a0002c0001t0002g0072 a0002c0001t0002g0073 a0002c0001t0002g0074 a0002c0001t0002g0075 a0002c0001t0002g0076 a0002c0001t0002g0077 a0002c0001t0002g0078 a0002c0001t0002g0079 a0002c0001t0002g0080 a0002c0001t0002g0081 a0002c0001t0002g0082 a0002c0001t0002g0083 a0002c0001t0002g0084 a0002c0001t0002g0085 a0002c0001t0002g0086 a0002c0001t0002g0087 a0002c0001t0002g0088 a0002c0001t0002g0089 a0002c0001t0002g0090 a0002c0001t0002g0091 a0002c0001t0002g0092 a0002c0001t0002g0093 a0002c0001t0002g0094 a0002c0001t0002g0095 a0002c0001t0002g0096 a0002c0001t0002g0097 a0002c0001t0002g0098 a0002c0001t0002g0099 a0002c0001t0002g0100 a0002c0001t0002g0101 a0002c0001t0002g0102 a0002c0001t0002g0104 a0002c0001t0002g0106 a0002c0001t0002g0107 a0002c0001t0002g0108 a0002c0001t0002g0109 a0002c0001t0002g0111 a0002c0001t0002g0112 a0002c0001t0002g0113 a0002c0001t0002g0114 a0002c0001t0002g0115 a0002c0001t0002g0116 a0002c0001t0002g0117 a0002c0001t0002g0118 a0002c0001t0002g0119 a0002c0001t0002g0120 a0002c0001t0002g0122 a0002c0001t0002g0123 a0002c0001t0002g0124 a0002c0001t0002g0125 a0002c0001t0002g0126 a0002c0001t0002g0127 a0002c0001t0002g0128 a0002c0001t0002g0129 a0002c0001t0002g0130 a0002c0001t0002g0131 a0002c0001t0002g0132 a0002c0001t0002g0133 a0002c0001t0002g0134 a0002c0001t0002g0135 a0002c0001t0002g0136 a0002c0001t0002g0137 a0002c0001t0002g0138 a0002c0001t0002g0139 a0002c0001t0002g0140 a0002c0001t0002g0141 a0002c0001t0002g0142 a0002c0001t0002g0143 a0002c0001t0002g0144 a0002c0001t0002g0145 a0002c0001t0002g0146 a0002c0001t0002g0147 a0002c0001t0002g0286 a0002c0001t0002g0294 a0002c0001t0002g0295 a0002c0001t0002g0327 a0002c0001t0002g0328 a0002c0001t0002g0329 a0002c0001t0002g0330 a0002c0001t0006g0103 a0002c0019t0002g0121 a0004c0005t0001g0220	101	146	0.6918	-15	c.242 others(34): Show c.2421-1813_2421-1799delAAAAAAAAAAAAAAA	SMC1B	ENSG00000077935.17	transcript	ENST00000357450.9	protein_coding	15/24			chr22	TogoVar
SMC4_chr3_160394650_160439953	160409265	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18999.hp2 NA18940.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0104 a0001c0001t0002g0105	2	127	0.0157	-15	c.688 others(32): Show c.688-2642_688-2628delAAAAAAAAAAAAAAA	SMC4	ENSG00000113810.16	transcript	ENST00000357388.8	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr3	TogoVar
SMC4_chr3_160394650_160439953	160436797	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0113 a0001c0001t0003g0113	1	143	0.0070	-15	c.29 others(26): Show c.2989_*3003delAAAAAAAAAAAAAAA	SMC4	ENSG00000113810.16	transcript	ENST00000357388.8	protein_coding		1845		chr3	TogoVar
SMC5_chr9_70253978_70359873	70309318	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00544.hp1 others(22): Show HG00323.hp2 HG00408.hp1 HG00544.hp1 HG00642.hp2 HG01074.hp1 HG01168.hp1 HG01175.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG02055.hp1 HG03041.hp2 HG03471.hp2 HG03540.hp1 HG03704.hp1 HG03927.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18946.hp1 NA18988.hp1 NA19000.hp1 NA19064.hp1 NA19065.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0121 a0001c0001t0002g0122 others(21): Show a0001c0001t0002g0010 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144	25	44	0.5682	-15	c.157 others(34): Show c.1578+3975_1578+3989delTTTTTTTTTTTTTTT	SMC5	ENSG00000198887.9	transcript	ENST00000361138.7	protein_coding	11/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMC5_chr9_70253978_70359873	70337450	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00438.hp1 others(113): Show HG00140.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02523.hp2 HG02602.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02735.hp2 HG02738.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG03130.hp1 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03492.hp1 HG03540.hp2 HG03710.hp2 HG03834.hp1 HG03942.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18949.hp1 NA18950.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18966.hp2 NA18968.hp1 NA18972.hp2 NA18979.hp1 NA18984.hp2 NA18990.hp1 NA18992.hp1 NA18994.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19055.hp2 NA19057.hp1 NA19058.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp2	a0001 a0005 a0015 others(1): Show a0001 a0005 a0015 a0016	a0001c0001 a0001c0010 a0005c0007 others(2): Show a0001c0001 a0001c0010 a0005c0007 a0015c0017 a0016c0016	a0001c0001t0002 a0001c0001t0007 a0001c0001t0015 others(7): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0023 a0001c0010t0002 a0005c0007t0002 a0015c0017t0002 a0016c0016t0002	a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0002g0017 others(103): Show a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0105 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0285 a0001c0001t0002g0287 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0306 a0001c0001t0002g0340 a0001c0001t0007g0283 a0001c0001t0007g0284 a0001c0001t0007g0286 a0001c0001t0015g0261 a0001c0001t0016g0290 a0001c0001t0017g0214 a0001c0001t0023g0247 a0001c0010t0002g0021 a0001c0010t0002g0258 a0001c0010t0002g0275 a0005c0007t0002g0016 a0005c0007t0002g0265 a0005c0007t0002g0266 a0005c0007t0002g0267 a0005c0007t0002g0268 a0015c0017t0002g0210 a0016c0016t0002g0294	116	150	0.7733	-15	c.239 others(34): Show c.2398-6684_2398-6670delTTTTTTTTTTTTTTT	SMC5	ENSG00000198887.9	transcript	ENST00000361138.7	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMC6_chr2_17658812_17758810	17740848	TCAAAAAA others(8): Show TCAAAAAAACAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02056.hp1 HG02145.hp1 others(6): Show HG01884.hp1 HG02056.hp1 HG02145.hp1 HG04204.hp2 NA18989.hp2 NA19004.hp2 NA19030.hp1 NA19043.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0232 a0001c0001t0005g0233 a0001c0001t0005g0234 others(6): Show a0001c0001t0005g0232 a0001c0001t0005g0233 a0001c0001t0005g0234 a0001c0001t0005g0235 a0001c0001t0005g0236 a0001c0001t0005g0238 a0001c0001t0005g0239 a0001c0001t0005g0240 a0001c0001t0005g0241	9	252	0.0357	-15	c.238 others(30): Show c.238+749_238+763delTTTTTTGTTTTTTTG	SMC6	ENSG00000163029.16	transcript	ENST00000448223.7	protein_coding	4/27			chr2	TogoVar
SMC6_chr2_17658812_17758810	17755066	TAATGGAA others(8): Show TAATGGAATTCTTTAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	252	0.0040	-15	c.-15 others(26): Show c.-1548_-1534delGTAAAGAATTCCATT	SMC6	ENSG00000163029.16	transcript	ENST00000448223.7	protein_coding		1257		chr2	TogoVar
SMCO1_chr3_196501879_196520346	196515983	GATAGGAT others(8): Show GATAGGATATATATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	277	0.0036	-15	c.-78 others(24): Show c.-789_-775delATATATATATCCTAT	SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding		638		chr3	TogoVar
SMCO3_chr12_14799650_14819182	14816656	GACATTGT others(8): Show GACATTGTAATGACTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0033 a0001c0001t0004g0033	1	388	0.0026	-15	c.-25 others(26): Show c.-2562_-2548delTAGTCATTACAATGT	SMCO3	ENSG00000179256.2	transcript	ENST00000316048.2	protein_coding		2475		chr12	TogoVar
SMG1_chr16_18799860_18931408	18849069	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01255.hp2 HG02165.hp2 others(9): Show HG00438.hp1 HG01255.hp2 HG02165.hp2 HG02698.hp1 HG02886.hp2 HG03041.hp1 HG03942.hp2 NA18986.hp1 NA18991.hp1 NA18991.hp2 NA19006.hp2 NA19088.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0003 a0001c0014 others(2): Show a0001c0001 a0001c0003 a0001c0014 a0001c0015 a0008c0028	a0001c0001t0001 a0001c0003t0006 a0001c0014t0001 others(2): Show a0001c0001t0001 a0001c0003t0006 a0001c0014t0001 a0001c0015t0006 a0008c0028t0001	a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0047 others(9): Show a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0072 a0001c0001t0001g0087 a0001c0001t0001g0137 a0001c0001t0001g0169 a0001c0003t0006g0033 a0001c0014t0001g0070 a0001c0015t0006g0166 a0008c0028t0001g0045	12	76	0.1579	-15	c.562 others(32): Show c.5623+133_5623+147delTTTTTTTTTTTTTTT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	36/62			chr16	TogoVar
SMG1_chr16_18799860_18931408	18874866	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03540.hp1 HG01891.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0007 a0001c0003t0001 a0001c0004t0007	a0001c0003t0001g0132 a0001c0004t0007g0011 a0001c0003t0001g0132 a0001c0004t0007g0011	2	12	0.1667	-15	c.189 others(34): Show c.1890+1243_1890+1257delTTTTTTTTTTTTTTT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	13/62			chr16	TogoVar
SMG1_chr16_18799860_18931408	18887762	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp1 HG01981.hp1 others(20): Show HG00323.hp1 HG00741.hp1 HG01981.hp1 HG02615.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02965.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03453.hp2 HG03490.hp1 HG03516.hp2 HG03669.hp2 HG03831.hp1 NA18981.hp1 NA18985.hp1 NA20300.hp1	a0001 a0005 a0013 a0001 a0005 a0013	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0005c0011 a0013c0020	a0001c0001t0011 a0001c0002t0002 a0001c0002t0005 others(4): Show a0001c0001t0011 a0001c0002t0002 a0001c0002t0005 a0001c0002t0032 a0001c0004t0004 a0005c0011t0002 a0013c0020t0004	a0001c0001t0011g0295 a0001c0002t0002g0237 a0001c0002t0002g0246 others(20): Show a0001c0001t0011g0295 a0001c0002t0002g0237 a0001c0002t0002g0246 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0269 a0001c0002t0002g0277 a0001c0002t0002g0279 a0001c0002t0002g0283 a0001c0002t0002g0290 a0001c0002t0005g0234 a0001c0002t0005g0240 a0001c0002t0005g0241 a0001c0002t0005g0268 a0001c0002t0005g0270 a0001c0002t0005g0271 a0001c0002t0032g0239 a0001c0004t0004g0017 a0001c0004t0004g0018 a0001c0004t0004g0022 a0001c0004t0004g0026 a0005c0011t0002g0235 a0013c0020t0004g0025	23	40	0.5750	-15	c.822 others(32): Show c.822+1595_822+1609delTTTTTTTTTTTTTTT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	6/62			chr16	TogoVar
SMG6_chr17_2054843_2308785	2080073	TCAAAACA others(8): Show TCAAAACAAAACAAAA	T T	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA19080.hp1 NA19090.hp1 NA18999.hp1 NA19080.hp1 NA19090.hp1	a0002 a0024 a0002 a0024	a0002c0002 a0024c0029 a0002c0002 a0024c0029	a0002c0002t0001 a0002c0002t0002 a0024c0029t0001 a0002c0002t0001 a0002c0002t0002 a0024c0029t0001	a0002c0002t0001g0082 a0002c0002t0002g0089 a0024c0029t0001g0072 a0002c0002t0001g0082 a0002c0002t0002g0089 a0024c0029t0001g0072	3	87	0.0345	-15	c.368 others(34): Show c.3681+1722_3681+1736delTTTTGTTTTGTTTTG	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	15/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2114970	GAAATAAA others(8): Show GAAATAAAATAAAATA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02622.hp1 HG02451.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0192 a0001c0001t0003g0210 a0001c0001t0003g0192 a0001c0001t0003g0210	2	271	0.0074	-15	c.335 others(36): Show c.3358-29084_3358-29070delTATTTTATTTTATTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2121630	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0177 a0003c0003t0005g0177	1	276	0.0036	-15	c.335 others(36): Show c.3358-35744_3358-35730delCACACACACACACAC	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2230322	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG04199.hp1 HG02523.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0023 a0001c0001 a0001c0023	a0001c0001t0002 a0001c0023t0002 a0001c0001t0002 a0001c0023t0002	a0001c0001t0002g0263 a0001c0023t0002g0274 a0001c0001t0002g0263 a0001c0023t0002g0274	2	276	0.0072	-15	c.286 others(34): Show c.2869+6155_2869+6169delCTTTTTTTTTTTTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	10/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2277153	ATTTATTT others(8): Show ATTTATTTATTTATTT	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0068 a0002c0002t0001g0068	1	276	0.0036	-15	c.266 others(34): Show c.2661+5479_2661+5493delAAATAAATAAATAAA	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	8/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2303829	GCCCCCTG others(8): Show GCCCCCTGCCGCCCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0202 a0001c0001t0003g0202	1	276	0.0036	-15	c.-12 others(24): Show c.-124_-110delGAGGGCGGCAGGGGG	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding		45		chr17	TogoVar
SMIM10L1_chr12_11166194_11181016	11168200	CGAAAGAA others(8): Show CGAAAGAAAGAAAGAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	368	0.0027	-15	c.-31 others(26): Show c.-3156_-3142delGAAAGAAAGAAAGAA	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2993		chr12	TogoVar
SMIM10L1_chr12_11166194_11181016	11168377	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0000 a0001c0002t0003g0000	1	274	0.0036	-15	c.-29 others(26): Show c.-2979_-2965delAAGAAAGAAAGAAAG	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2816		chr12	TogoVar
SMIM10L1_chr12_11166194_11181016	11168389	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	1	270	0.0037	-15	c.-29 others(26): Show c.-2967_-2953delAAGAAAGAAAGAAAG	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2804		chr12	TogoVar
SMIM10_chrX_134985991_134997473	134986702	TCTTTTTT others(8): Show TCTTTTTTCTTCCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	293	0.0034	-15	c.-43 others(26): Show c.-4393_-4379delCTTTTTTCTTCCTTC	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		4288		chrX	TogoVar
SMIM13_chr6_11088834_11143733	11089299	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01884.hp2 HG01891.hp2 others(33): Show HG01070.hp1 HG01884.hp2 HG01891.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp2 HG02129.hp2 HG02155.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02523.hp1 HG02622.hp1 HG02647.hp2 HG02717.hp1 HG02738.hp1 HG02970.hp1 HG03139.hp1 HG03471.hp1 NA18522.hp1 NA18940.hp2 NA18942.hp1 NA18946.hp2 NA18965.hp2 NA18974.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA19002.hp2 NA19005.hp2 NA19030.hp2 NA19054.hp1 NA19058.hp1 NA19065.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0017 a0001c0001t0021 a0001c0001t0026	a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0002g0043 others(27): Show a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0002g0043 a0001c0001t0002g0155 a0001c0001t0002g0161 a0001c0001t0003g0018 a0001c0001t0003g0027 a0001c0001t0003g0168 a0001c0001t0003g0193 a0001c0001t0003g0236 a0001c0001t0004g0003 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0060 a0001c0001t0004g0069 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0004g0074 a0001c0001t0004g0076 a0001c0001t0004g0078 a0001c0001t0005g0189 a0001c0001t0007g0033 a0001c0001t0007g0034 a0001c0001t0007g0035 a0001c0001t0007g0278 a0001c0001t0008g0227 a0001c0001t0008g0228 a0001c0001t0017g0034 a0001c0001t0021g0046 a0001c0001t0026g0056	36	61	0.5902	-15	c.-50 others(26): Show c.-5014_-5000delTTTTTTTTTTTTTTT	SMIM13	ENSG00000224531.6	transcript	ENST00000416247.4	protein_coding		4534		chr6	TogoVar
SMIM13_chr6_11088834_11143733	11124731	CTCATTGT others(8): Show CTCATTGTAGTTTCGT	C C	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	398	0.0025	-15	c.77- others(30): Show c.77-9670_77-9656delCATTGTAGTTTCGTT	SMIM13	ENSG00000224531.6	transcript	ENST00000416247.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMIM17_chr19_56638159_56662247	56650577	TCCTCTAC others(8): Show TCCTCTACAGATGAGG	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0094 a0001c0001t0028g0094	1	416	0.0024	-15	c.246 others(32): Show c.246+2944_246+2958delCCTCTACAGATGAGG	SMIM17	ENSG00000268182.6	transcript	ENST00000598409.6	protein_coding	3/3			chr19	TogoVar
SMIM1_chr1_3767749_3780956	3772552	CCCCCCTC others(8): Show CCCCCCTCTCGCCCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG02602.hp2 HG01515.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0001 a0001c0001t0001g0030	2	417	0.0048	-15	c.-43 others(24): Show c.-430_-416delCCCCCTCTCGCCCCG	SMIM1	ENSG00000235169.11	transcript	ENST00000642557.4	protein_coding		196		chr1	TogoVar

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