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
SPIRE2_chr16_89823475_89876319	89852377	C C	CCCATATT others(345): Show CCCATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCA TGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCATGGCCCATCTT CCATCCTCCCCCCACCCCCCAGATCCCCTGGCCCATCTTCCATCCTCCCT CTCACCCCCCATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCG GATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCGGATCCCACGGC CCATCTTCCATCCTCCCCCCACCCACCAGATCCCATGGCCCATCTTCCAT CCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCAC CCA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	356	0.0028	352	c.645 others(369): Show c.645+1720_645+1721insTATTCCATGGCCCATCTTCCATCCTCCC CCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCA GATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCCTGGC CCATCTTCCATCCTCCCTCTCACCCCCCATATTCCATGGCCCATCTTCCA TCCTCCCCCCACCCCCCGGATCCCATGGCCCATCTTCCATCCTCCCCCCA CCCCCCGGATCCCACGGCCCATCTTCCATCCTCCCCCCACCCACCAGATC CCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCAT CTTCCATCCTCTCCCCACCCACCA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPNS3_chr17_4428940_4493204	4462382	C C	CACCAATC others(345): Show CACCAATCTATCCATCCATTCATCCACCAATCTATCCATCCATCCACCCA TCCACCAATCCATCCATCCACCAATCCATCCACCAATCCATCCATCCATC CATCCATCCACCCACCCACCAGTCCATCCACCCACCAATCCATCCATTCA TCCATCCACCCACCAATCCATCCACCCACCAATCCATCCATCCAGCCATC CATCCACCCACCCACCCACCCACCCATCCACCAATCCATCCATCCATCCA TCCACCCACCCACCCACCAATCCATCCATCCACCCACCCACCAATCCATC CATCCATCCATCCATCCACCCACCCACCTACCCACCCATCCATCCACCAA TCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00673.hp1 others(18): Show HG00438.hp1 HG00597.hp1 HG00673.hp1 HG02015.hp1 HG02040.hp1 HG02071.hp2 HG02074.hp1 HG02165.hp2 NA18950.hp1 NA18950.hp2 NA18957.hp2 NA18960.hp1 NA18965.hp2 NA19000.hp2 NA19009.hp2 NA19068.hp1 NA19068.hp2 NA19077.hp1 NA19079.hp1 NA19085.hp1 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0001c0001t0001 a0001c0004t0001 a0002c0002t0001	a0001c0001t0001g0168 a0001c0001t0001g0188 a0001c0001t0001g0193 others(18): Show a0001c0001t0001g0168 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0229 a0001c0004t0001g0054 a0001c0004t0001g0056 a0001c0004t0001g0065 a0001c0004t0001g0067 a0001c0004t0001g0068 a0001c0004t0001g0069 a0001c0004t0001g0072 a0001c0004t0001g0073 a0001c0004t0001g0074 a0001c0004t0001g0092 a0001c0004t0001g0093 a0002c0002t0001g0287	21	362	0.0580	352	c.111 others(371): Show c.1113+9178_1113+9179insCCAATCTATCCATCCATTCATCCACC AATCTATCCATCCATCCACCCATCCACCAATCCATCCATCCACCAATCCA TCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACCAGTCCATC CACCCACCAATCCATCCATTCATCCATCCACCCACCAATCCATCCACCCA CCAATCCATCCATCCAGCCATCCATCCACCCACCCACCCACCCACCCATC CACCAATCCATCCATCCATCCATCCACCCACCCACCCACCAATCCATCCA TCCACCCACCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACC TACCCACCCATCCATCCACCAATCTA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4462386	C C	CACCAATC others(345): Show CACCAATCTATCCATCCATTCATCCACCAATCTATCCATCCATCCACCCA TCCACCAATCCATCCATCCACCAATCCATCCACCAATCCATCCATCCATC CATCCATCCACCCACCCACCAGTCCATCCACCCACCAATCCATCCATTCA TCCATCCACCCACCAATCCATCCACCCACCAATCCATCCATCCAGCCATC CATCCACCCACCCACCCACCCACCCATCCACCAATCCATCCATCCATCCA TCCACCCACCCACCCACCAATCCATCCATCCACCCACCCACCAATCCATC CATCCATCCATCCATCCACCCACCCACCTACCCACCCATCCATCCACCAA TCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00544.hp1 others(47): Show HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00738.hp1 HG00741.hp1 HG01975.hp2 HG02027.hp2 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02135.hp2 HG02155.hp1 HG02273.hp1 HG02273.hp2 HG02965.hp1 HG03239.hp1 HG04204.hp2 NA18747.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18961.hp1 NA18965.hp1 NA18970.hp2 NA18971.hp2 NA18977.hp2 NA18982.hp1 NA18983.hp1 NA18992.hp1 NA18992.hp2 NA19000.hp1 NA19002.hp1 NA19007.hp1 NA19056.hp1 NA19060.hp1 NA19063.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19079.hp2 NA19085.hp2 NA19088.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0008 a0011	a0001c0001 a0001c0004 a0001c0014 others(6): Show a0001c0001 a0001c0004 a0001c0014 a0002c0002 a0003c0005 a0003c0020 a0006c0019 a0008c0026 a0011c0027	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0014t0001 a0001c0014t0002 a0002c0002t0001 a0003c0005t0001 a0003c0020t0001 a0006c0019t0001 a0008c0026t0001 a0011c0027t0001	a0001c0001t0001g0032 a0001c0001t0001g0096 a0001c0001t0001g0097 others(47): Show a0001c0001t0001g0032 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0112 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0253 a0001c0001t0001g0259 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0296 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0353 a0001c0001t0002g0153 a0001c0001t0002g0169 a0001c0001t0002g0195 a0001c0004t0001g0064 a0001c0004t0001g0066 a0001c0004t0001g0070 a0001c0014t0001g0018 a0001c0014t0001g0019 a0001c0014t0002g0017 a0002c0002t0001g0304 a0003c0005t0001g0116 a0003c0020t0001g0119 a0006c0019t0001g0338 a0008c0026t0001g0227 a0011c0027t0001g0234	50	362	0.1381	352	c.111 others(371): Show c.1113+9182_1113+9183insCCAATCTATCCATCCATTCATCCACC AATCTATCCATCCATCCACCCATCCACCAATCCATCCATCCACCAATCCA TCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACCAGTCCATC CACCCACCAATCCATCCATTCATCCATCCACCCACCAATCCATCCACCCA CCAATCCATCCATCCAGCCATCCATCCACCCACCCACCCACCCACCCATC CACCAATCCATCCATCCATCCATCCACCCACCCACCCACCAATCCATCCA TCCACCCACCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACC TACCCACCCATCCATCCACCAATCTA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4462390	C C	CACCAATC others(345): Show CACCAATCTATCCATCCATTCATCCACCAATCTATCCATCCATCCACCCA TCCACCAATCCATCCATCCACCAATCCATCCACCAATCCATCCATCCATC CATCCATCCACCCACCCACCAGTCCATCCACCCACCAATCCATCCATTCA TCCATCCACCCACCAATCCATCCACCCACCAATCCATCCATCCAGCCATC CATCCACCCACCCACCCACCCACCCATCCACCAATCCATCCATCCATCCA TCCACCCACCCACCCACCAATCCATCCATCCACCCACCCACCAATCCATC CATCCATCCATCCATCCACCCACCCACCTACCCACCCATCCATCCACCAA TCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00544.hp2 others(32): Show HG00280.hp2 HG00438.hp2 HG00544.hp2 HG00673.hp2 HG01069.hp1 HG01071.hp1 HG01123.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01952.hp1 HG01981.hp1 HG02015.hp2 HG02074.hp2 HG02083.hp2 HG02165.hp1 HG02257.hp1 HG02559.hp2 HG02647.hp1 HG03239.hp2 HG03579.hp2 NA18612.hp1 NA18747.hp1 NA18952.hp1 NA18973.hp2 NA18977.hp1 NA18982.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19056.hp2 NA19064.hp1 NA19081.hp2 NA19088.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0001c0003 a0001c0007 others(3): Show a0001c0001 a0001c0003 a0001c0007 a0001c0035 a0003c0005 a0008c0026	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0007t0003 a0001c0035t0002 a0003c0005t0001 a0008c0026t0001	a0001c0001t0001g0001 a0001c0001t0001g0105 a0001c0001t0001g0109 others(31): Show a0001c0001t0001g0001 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0167 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0278 a0001c0001t0001g0332 a0001c0001t0001g0334 a0001c0001t0001g0352 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0002g0205 a0001c0001t0002g0226 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0003t0002g0138 a0001c0003t0002g0139 a0001c0003t0002g0140 a0001c0003t0002g0150 a0001c0007t0003g0163 a0001c0007t0003g0171 a0001c0007t0003g0243 a0001c0007t0003g0250 a0001c0007t0003g0251 a0001c0035t0002g0043 a0003c0005t0001g0106 a0003c0005t0001g0120 a0008c0026t0001g0242	35	362	0.0967	352	c.111 others(371): Show c.1113+9186_1113+9187insCCAATCTATCCATCCATTCATCCACC AATCTATCCATCCATCCACCCATCCACCAATCCATCCATCCACCAATCCA TCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACCAGTCCATC CACCCACCAATCCATCCATTCATCCATCCACCCACCAATCCATCCACCCA CCAATCCATCCATCCAGCCATCCATCCACCCACCCACCCACCCACCCATC CACCAATCCATCCATCCATCCATCCACCCACCCACCCACCAATCCATCCA TCCACCCACCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACC TACCCACCCATCCATCCACCAATCTA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4462394	C C	CACCAATC others(345): Show CACCAATCTATCCATCCATTCATCCACCAATCTATCCATCCATCCACCCA TCCACCAATCCATCCATCCACCAATCCATCCACCAATCCATCCATCCATC CATCCATCCACCCACCCACCAGTCCATCCACCCACCAATCCATCCATTCA TCCATCCACCCACCAATCCATCCACCCACCAATCCATCCATCCAGCCATC CATCCACCCACCCACCCACCCACCCATCCACCAATCCATCCATCCATCCA TCCACCCACCCACCCACCAATCCATCCATCCACCCACCCACCAATCCATC CATCCATCCATCCATCCACCCACCCACCTACCCACCCATCCATCCACCAA TCT	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA19002.hp2 HG01106.hp1 NA19002.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0002 a0001c0001t0001 a0003c0005t0002	a0001c0001t0001g0206 a0003c0005t0002g0157 a0001c0001t0001g0206 a0003c0005t0002g0157	2	362	0.0055	352	c.111 others(371): Show c.1113+9190_1113+9191insCCAATCTATCCATCCATTCATCCACC AATCTATCCATCCATCCACCCATCCACCAATCCATCCATCCACCAATCCA TCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACCAGTCCATC CACCCACCAATCCATCCATTCATCCATCCACCCACCAATCCATCCACCCA CCAATCCATCCATCCAGCCATCCATCCACCCACCCACCCACCCACCCATC CACCAATCCATCCATCCATCCATCCACCCACCCACCCACCAATCCATCCA TCCACCCACCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACC TACCCACCCATCCATCCACCAATCTA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4462398	C C	CACCAATC others(345): Show CACCAATCTATCCATCCATTCATCCACCAATCTATCCATCCATCCACCCA TCCACCAATCCATCCATCCACCAATCCATCCACCAATCCATCCATCCATC CATCCATCCACCCACCCACCAGTCCATCCACCCACCAATCCATCCATTCA TCCATCCACCCACCAATCCATCCACCCACCAATCCATCCATCCAGCCATC CATCCACCCACCCACCCACCCACCCATCCACCAATCCATCCATCCATCCA TCCACCCACCCACCCACCAATCCATCCATCCACCCACCCACCAATCCATC CATCCATCCATCCATCCACCCACCCACCTACCCACCCATCCATCCACCAA TCT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00642.hp2 HG01099.hp2 others(20): Show HG00621.hp2 HG00642.hp2 HG01099.hp2 HG01175.hp2 HG01255.hp2 HG01515.hp2 HG02040.hp2 HG02109.hp2 HG02135.hp1 HG02698.hp2 HG02895.hp2 HG02897.hp2 HG03491.hp2 HG04115.hp2 NA18939.hp1 NA18943.hp1 NA18969.hp2 NA18973.hp1 NA18980.hp2 NA18986.hp2 NA19012.hp2 NA19066.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0006 others(5): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0023 a0003c0005 a0003c0008 a0003c0016	a0001c0001t0001 a0001c0003t0001 a0001c0006t0002 others(5): Show a0001c0001t0001 a0001c0003t0001 a0001c0006t0002 a0001c0007t0003 a0001c0023t0003 a0003c0005t0001 a0003c0008t0003 a0003c0016t0002	a0001c0001t0001g0095 a0001c0001t0001g0132 a0001c0001t0001g0181 others(20): Show a0001c0001t0001g0095 a0001c0001t0001g0132 a0001c0001t0001g0181 a0001c0001t0001g0189 a0001c0001t0001g0199 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0252 a0001c0001t0001g0298 a0001c0003t0001g0351 a0001c0006t0002g0011 a0001c0006t0002g0012 a0001c0007t0003g0297 a0001c0023t0003g0053 a0003c0005t0001g0118 a0003c0005t0001g0158 a0003c0005t0001g0311 a0003c0008t0003g0130 a0003c0008t0003g0270 a0003c0008t0003g0271 a0003c0016t0002g0082	23	362	0.0635	352	c.111 others(371): Show c.1113+9194_1113+9195insCCAATCTATCCATCCATTCATCCACC AATCTATCCATCCATCCACCCATCCACCAATCCATCCATCCACCAATCCA TCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACCAGTCCATC CACCCACCAATCCATCCATTCATCCATCCACCCACCAATCCATCCACCCA CCAATCCATCCATCCAGCCATCCATCCACCCACCCACCCACCCACCCATC CACCAATCCATCCATCCATCCATCCACCCACCCACCCACCAATCCATCCA TCCACCCACCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACC TACCCACCCATCCATCCACCAATCTA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4462398	C C	CACCCACC others(345): Show CACCCACCAATCTATCCATCCATTCATCCACCAATCTATCCATCCATCCA CCCATCCACCAATCCATCCATCCACCAATCCATCCACCAATCCATCCATC CATCCATCCATCCACCCACCCACCAGTCCATCCACCCACCAATCCATCCA TTCATCCATCCACCCACCAATCCATCCACCCACCAATCCATCCATCCAGC CATCCATCCACCCACCCACCCACCCACCCATCCACCAATCCATCCATCCA TCCACCCACCCACCCACCCACCAATCCATCCATCCACCCACCCACCAATC CATCCATCCATCCATCCATCCACCCACCCACCTACCCACCCATCCATCCA CCA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0003 a0005c0015t0003	a0005c0015t0003g0161 a0005c0015t0003g0161	1	362	0.0028	352	c.111 others(371): Show c.1113+9194_1113+9195insCCCACCAATCTATCCATCCATTCATC CACCAATCTATCCATCCATCCACCCATCCACCAATCCATCCATCCACCAA TCCATCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACCAGTC CATCCACCCACCAATCCATCCATTCATCCATCCACCCACCAATCCATCCA CCCACCAATCCATCCATCCAGCCATCCATCCACCCACCCACCCACCCACC CATCCACCAATCCATCCATCCATCCACCCACCCACCCACCCACCAATCCA TCCATCCACCCACCCACCAATCCATCCATCCATCCATCCATCCACCCACC CACCTACCCACCCATCCATCCACCAA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4462402	C C	CACCAATC others(345): Show CACCAATCTATCCATCCATTCATCCACCAATCTATCCATCCATCCACCCA TCCACCAATCCATCCATCCACCAATCCATCCACCAATCCATCCATCCATC CATCCATCCACCCACCCACCAGTCCATCCACCCACCAATCCATCCATTCA TCCATCCACCCACCAATCCATCCACCCACCAATCCATCCATCCAGCCATC CATCCACCCACCCACCCACCCACCCATCCACCAATCCATCCATCCATCCA TCCACCCACCCACCCACCAATCCATCCATCCACCCACCCACCAATCCATC CATCCATCCATCCATCCACCCACCCACCTACCCACCCATCCATCCACCAA TCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp2 HG02698.hp1 others(4): Show HG00280.hp1 HG01070.hp2 HG02698.hp1 NA18962.hp2 NA18970.hp1 NA18986.hp1 NA19011.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0001c0013 others(3): Show a0001c0001 a0001c0007 a0001c0013 a0003c0005 a0003c0008 a0003c0021	a0001c0001t0001 a0001c0007t0003 a0001c0013t0001 others(3): Show a0001c0001t0001 a0001c0007t0003 a0001c0013t0001 a0003c0005t0001 a0003c0008t0003 a0003c0021t0003	a0001c0001t0001g0166 a0001c0001t0001g0244 a0001c0007t0003g0174 others(4): Show a0001c0001t0001g0166 a0001c0001t0001g0244 a0001c0007t0003g0174 a0001c0013t0001g0180 a0003c0005t0001g0236 a0003c0008t0003g0121 a0003c0021t0003g0002	7	362	0.0193	352	c.111 others(371): Show c.1113+9198_1113+9199insCCAATCTATCCATCCATTCATCCACC AATCTATCCATCCATCCACCCATCCACCAATCCATCCATCCACCAATCCA TCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACCAGTCCATC CACCCACCAATCCATCCATTCATCCATCCACCCACCAATCCATCCACCCA CCAATCCATCCATCCAGCCATCCATCCACCCACCCACCCACCCACCCATC CACCAATCCATCCATCCATCCATCCACCCACCCACCCACCAATCCATCCA TCCACCCACCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACC TACCCACCCATCCATCCACCAATCTA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SSU72_chr1_1536673_1579863	1543725	C C	CCTCTGTC others(345): Show CCTCTGTCACGGCCTCGGCCACTCCCCTCTGTCACGGCCTCGGCCACTCC CCACTGTCACGGCCTCGGCCACTCCCCTCTGTCACGGCCTCGGCCACTCC CCACTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCC CCTCTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCC CCTCTGTCACGGCCTCGGCCACTCCCCTCTGTCACGGCCTCGGCCACTCC CCACTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCC CCTCTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCC CCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03098.hp1 HG01884.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0127 a0001c0001t0001g0128	2	386	0.0052	352	c.483 others(367): Show c.483+143_483+144insAGGGGAGTGGCCGAGGCCGTGACAGTGGGG AGTGGCCGAGGCCGTGACAGAGGGGAGTGGCCGAGGCCGTGACAGTGGGG AGTGGCCGAGGCCGTGACAGTGGGGAGTGGCCGAGGCCGTGACAGAGGGG AGTGGCCGAGGCCGTGACAGAGGGGAGTGGCCGAGGCCGTGACAGTGGGG AGTGGCCGAGGCCGTGACAGAGGGGAGTGGCCGAGGCCGTGACAGTGGGG AGTGGCCGAGGCCGTGACAGTGGGGAGTGGCCGAGGCCGTGACAGAGGGG AGTGGCCGAGGCCGTGACAGTGGGGAGTGGCCGAGGCCGTGACAGAGGGG AGTGGCCGAGGCCGTGACAGAG	SSU72	ENSG00000160075.12	transcript	ENST00000291386.4	protein_coding	4/4			chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77003279	T T	TTAAAGTC others(345): Show TTAAAGTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	202	0.0050	352	c.262 others(371): Show c.262-40912_262-40911insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCC GCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCTAAAGTCTGTTTT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
STPG4_chr2_47081991_47160308	47092141	T T	TGCATTTT others(345): Show TGCATTTTCTAATTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTTGCTCTGTCGCCAAGGC TGGAGTGCAGTGGCGTGACCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTACAGGCAC TCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTGGTAGAGACGAGGTT TCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCC ATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0040 a0003c0003t0001g0040	1	352	0.0028	352	c.520 others(369): Show c.520-1768_520-1767insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGATGGGCGGATCACAAGGTCAGGAGATC GAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACCAAAAATACAA AAAAATTAGCCGGGCGTGGTGGCGAGTGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGACAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGGTCACGCCACTGCACTCCAGCCTTGGCGACAGAGCAAGACTTTG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAGAAAAATTAGAAAATGC	STPG4	ENSG00000239605.11	transcript	ENST00000445927.7	protein_coding	5/6			chr2	TogoVar
SULT1B1_chr4_69716167_69765620	69762362	G G	GGGGGGGT others(345): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGG GTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCGCC TGGCCAGCCGCCCCATCCGGGAGGGGGGGGGTCAGCCCCCCGCCCGGCCA GCCACCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGG TGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0114 a0001c0001t0011g0114	1	408	0.0025	352	c.-19 others(363): Show c.-1949_-1948insACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCTCC CGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCCCACCTCCCT CCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGTGGCTGGCCGG GCGGGGGGCTGACCCCCC	SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding		1743		chr4	TogoVar
SULT1B1_chr4_69716167_69765620	69762362	G G	GGGGGGTC others(345): Show GGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGG TGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCGCCT GGCCAGCCGCCCCATCCGGGAGGGGGGGGGGTCAGCCCCCCGCCCGGCCA GCCACCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGG TGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG01168.hp2 others(12): Show HG00438.hp1 HG00558.hp1 HG01168.hp2 HG01169.hp2 HG02015.hp2 HG03491.hp1 NA18941.hp2 NA18952.hp1 NA18961.hp1 NA18970.hp2 NA18973.hp2 NA19010.hp2 NA19057.hp1 NA19074.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 others(5): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0021 a0001c0001t0023 a0001c0001t0033 a0001c0001t0072	a0001c0001t0005g0029 a0001c0001t0005g0037 a0001c0001t0005g0092 others(10): Show a0001c0001t0005g0029 a0001c0001t0005g0037 a0001c0001t0005g0092 a0001c0001t0005g0119 a0001c0001t0008g0016 a0001c0001t0011g0030 a0001c0001t0012g0113 a0001c0001t0021g0010 a0001c0001t0023g0076 a0001c0001t0023g0090 a0001c0001t0023g0115 a0001c0001t0033g0033 a0001c0001t0072g0116	15	408	0.0368	352	c.-19 others(363): Show c.-1949_-1948insACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCTC CCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCCCACCTCCC TCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGTGGCTGGCCG GGCGGGGGGCTGACCCCC	SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding		1743		chr4	TogoVar
SULT1B1_chr4_69716167_69765620	69762362	G G	GGGGGGTC others(345): Show GGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGG TGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGGTCAGCCCCCCGCCTG GCCAGCCGCCCCATCCGGGAGGGGGGGGGGGTCAGCCCCCCGCCCGGCCA GCCACCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGG TGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0110 a0001c0001t0005g0110	1	408	0.0025	352	c.-19 others(363): Show c.-1949_-1948insACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCT CCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCCACCTCCC TCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGTGGCTGGCCG GGCGGGGGGCTGACCCCC	SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding		1743		chr4	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(345): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGTGTATAT ATACACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATAT ACGTGTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATAC ACGTGTATATATATACACGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGT GTATATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGT GTA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0237 a0001c0002t0001g0237	1	392	0.0026	352	c.271 others(369): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACACGTATATATATACACGTGTATATA TACACACGTGTATATATATACACGTGTATATATACACACACGTATATATA TACACGTGTATATATACACACACGTATATATATACACGTGTATATATACA CACACGTATATATATACACGTGTATATATACACACACGTATATATATACA CGTGTATATATACACACACGTATATATATACACGTATATATACACACACA CGTATATATATACACGTATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(345): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATATATACACGTGTATATATACACGTGTATATATATACGTGTGTGTATAT ATACACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATAT ACGTGTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGT GTATATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGT GTA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0229	1	392	0.0026	352	c.271 others(369): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACACGTATATATATACACGTGTATATA TACACACACGTATATATATACACGTGTATATATACACACACGTATATATA TACACGTGTATATATACACACACGTATATATATACACGTGTATATATACA CACACGTATATATATACACGTGTATATATACACACACGTATATATATACA CGTGTATATATACACGTGTATATATATATACACGTATATATACACACACA CGTATATATATACACGTATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SYN2_chr3_11999388_12197032	12095548	A A	AAAAAAAA others(345): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAACATTGGCCGGGCACGGTGGCTTACGCCTGTAATCCCAGCA CTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCAT CCTGGCTAACATGGTGAAACCCCATCTCTACTGAATATTAAAAAAAAAAA AAAAAAAGCCGGGCGTTGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGATGTGAACCCGGGAGGTGGAGCTTGCAGTGAG CCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACGCAGCAAGACTCCGT CTC	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	264	0.0038	352	c.378 others(371): Show c.378-45078_378-45077insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAACATTGGCCGGGCACGGTGGCTTACGCCTGTAATCCCAGCACT TTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCATCC TGGCTAACATGGTGAAACCCCATCTCTACTGAATATTAAAAAAAAAAAAA AAAAAGCCGGGCGTTGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGATGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCC GAGATTGTGCCACTGCACTCCAGCCTGGGCGACGCAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAA	SYN2	ENSG00000157152.17	transcript	ENST00000621198.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
TAFA4_chr3_68726766_68937547	68781188	C C	CAAGAAAG others(345): Show CAAGAAAGGTCCTAAGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA AATTAGCCGGGCGAGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGC CGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	316	0.0032	352	c.131 others(371): Show c.131-28171_131-28170insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCC AGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCT GGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGTGCCCGCCACCTCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCGACTTAGGACCTTTCTT	TAFA4	ENSG00000163377.16	transcript	ENST00000295569.12	protein_coding	3/5			chr3	TogoVar
TAFA4_chr3_68726766_68937547	68781188	C C	CAAGAAAG others(345): Show CAAGAAAGGTCCTAAGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA AATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGC CGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18960.hp1 NA19000.hp1 others(3): Show NA18951.hp1 NA18960.hp1 NA19000.hp1 NA19066.hp2 NA19087.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0249 a0001c0001t0001g0259 a0001c0001t0001g0260 others(3): Show a0001c0001t0001g0249 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0266 a0001c0001t0001g0282 a0001c0001t0002g0024	6	316	0.0190	352	c.131 others(371): Show c.131-28171_131-28170insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCC AGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCT GGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCTCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCGACTTAGGACCTTTCTT	TAFA4	ENSG00000163377.16	transcript	ENST00000295569.12	protein_coding	3/5			chr3	TogoVar
TBC1D16_chr17_79927343_80040872	80024585	C C	CCACACAC others(345): Show CCACACACCACACACCATAGACACACACACCACACACCATAAGCACACAC ACCACACACACCATAGACACACATACCACACACCACACACCATACCACAC ACAACACACACCATAGACACACACACCATACACCATAGACACACATACCA CACACATCATAGACACACACACTACACATCATAGACACACACACCACACA GCATAGACACACACCACACGCACCATAGACAAACCACACACACCATACAC ACACCACACACCATATACACACACACCACACACCACACACCATAGGCACA CACACCACACACCATAGGCACACACACCACACACCATACACACACCATAG ACA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0055 a0001c0003t0055	a0001c0003t0055g0193 a0001c0003t0055g0193	1	334	0.0030	352	c.-62 others(371): Show c.-62-10977_-62-10976insTGTCTATGGTGTGTGTATGGTGTGTG GTGTGTGTGCCTATGGTGTGTGGTGTGTGTGCCTATGGTGTGTGGTGTGT GGTGTGTGTGTATATGGTGTGTGGTGTGTGTATGGTGTGTGTGGTTTGTC TATGGTGCGTGTGGTGTGTGTCTATGCTGTGTGGTGTGTGTGTCTATGAT GTGTAGTGTGTGTGTCTATGATGTGTGTGGTATGTGTGTCTATGGTGTAT GGTGTGTGTGTCTATGGTGTGTGTTGTGTGTGGTATGGTGTGTGGTGTGT GGTATGTGTGTCTATGGTGTGTGTGGTGTGTGTGCTTATGGTGTGTGGTG TGTGTGTCTATGGTGTGTGGTGTGTG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding	1/11			chr17	TogoVar
TBC1D22A_chr22_46757650_47180693	46772340	T T	TACACATA others(345): Show TACACATATATATGTATACACACATACACATATATATGTATACACACATA CACATATATATGTATACACACATACACATATATATGTATACACACATACA CATATATATGTATACACACACATATATATGTATACACACACACATATATA TGTATACACACACATATATATGTATACACACATACATATATATGTATACA CACACATATATATGTATACACACACATATATATGTATACACACACACATA TATATGTATACACACACACATATATATGTATACACACATACATATATATG TATACACACATACATATATATGTATACACACATACATATATATGTATACA CAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0077 a0001c0001t0007g0077	1	112	0.0089	352	c.62+ others(367): Show c.62+9493_62+9494insCACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACACATATATATGTA TACACACACACATATATATGTATACACACACATATATATGTATACACACA TACATATATATGTATACACACACATATATATGTATACACACACATATATA TGTATACACACACACATATATATGTATACACACACACATATATATGTATA CACACATACATATATATGTATACACACATACATATATATGTATACACACA TACATATATATGTATACACACA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47170899	C C	CGGAGAGA others(345): Show CGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGA GAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGAC AGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCT GGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTG TAACGCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCC TCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACGCTCCTGA TGCAGGACCGGAAAGAGGACAGTCCTGGTGTGTAACCTTCCTGATGTGGG GCT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02622.hp2 HG02717.hp1 others(14): Show HG02615.hp1 HG02622.hp2 HG02717.hp1 HG02723.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03486.hp2 NA18522.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0020 a0001c0001t0023	a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0016 others(14): Show a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0032 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0004g0024 a0001c0001t0004g0093 a0001c0001t0005g0104 a0001c0001t0010g0004 a0001c0001t0010g0013 a0001c0001t0010g0025 a0001c0001t0020g0038 a0001c0001t0023g0103	17	112	0.1518	352	c.142 others(371): Show c.1426-2590_1426-2589insACAGTCCTGGTGTGTAACCCTCCTGA TGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGG ACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGA GAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGG ACAGTCCTGGTGTGTAACGCTCCTGATGCAGGACCGGAGAGAGGACAGTC CTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTG TGTAACGCTCCTGATGCAGGACCGGAAAGAGGACAGTCCTGGTGTGTAAC CTTCCTGATGTGGGGCTGGAGAGAGG	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TENM2_chr5_166974029_168269157	167427641	G G	GGGAAGAA others(345): Show GGGAAGAAAGGACGGAAAGGAAGGGAAGGAAGGGACGGGAGGGAAGGAAG GGAAGAAGGAAGGACGGAAAGGAAGGGAAGGAAGGGAAGGAAGGAAGGAC GGAAAGGAAGGGAAGGAAGGGAAGGAAGGAAGGACGGAAAGGAAGGGAAG GAAGGGACGGGAGGGAAGGAAGGGAAGAAGGAAGGACGGAAAGGAAGGGA AGGAAGGGAAGGAAGGAAGGACGGAAAGGAAGGGAAGGAAGGGACGGGAG GGAAGGAAGGGAAGAAGGAAGGACGGAAAGGAAGGGAAGGAAGGGAAGGA AGGAAGGACGGAAAGGAAGGGAAGGAAGGGACGGGAGGGAAGGAAGGGAA GAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01192.hp2 HG02145.hp2 others(8): Show HG01081.hp2 HG01192.hp2 HG02145.hp2 HG02602.hp1 HG02615.hp2 HG02897.hp1 HG02970.hp2 HG03098.hp1 HG03516.hp2 NA19043.hp2 NA21309.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0004 a0001c0008 a0001c0016 others(6): Show a0001c0004 a0001c0008 a0001c0016 a0001c0019 a0001c0022 a0001c0030 a0001c0037 a0003c0014 a0008c0036	a0001c0004t0007 a0001c0004t0009 a0001c0008t0003 others(7): Show a0001c0004t0007 a0001c0004t0009 a0001c0008t0003 a0001c0016t0015 a0001c0019t0003 a0001c0022t0021 a0001c0030t0026 a0001c0037t0030 a0003c0014t0019 a0008c0036t0009	a0001c0004t0007g0010 a0001c0004t0007g0054 a0001c0004t0009g0025 others(8): Show a0001c0004t0007g0010 a0001c0004t0007g0054 a0001c0004t0009g0025 a0001c0008t0003g0029 a0001c0016t0015g0047 a0001c0019t0003g0022 a0001c0022t0021g0024 a0001c0030t0026g0014 a0001c0037t0030g0011 a0003c0014t0019g0008 a0008c0036t0009g0017	11	54	0.2037	352	c.502 others(371): Show c.502+52173_502+52174insAAAGGACGGAAAGGAAGGGAAGGAAG GGACGGGAGGGAAGGAAGGGAAGAAGGAAGGACGGAAAGGAAGGGAAGGA AGGGAAGGAAGGAAGGACGGAAAGGAAGGGAAGGAAGGGAAGGAAGGAAG GACGGAAAGGAAGGGAAGGAAGGGACGGGAGGGAAGGAAGGGAAGAAGGA AGGACGGAAAGGAAGGGAAGGAAGGGAAGGAAGGAAGGACGGAAAGGAAG GGAAGGAAGGGACGGGAGGGAAGGAAGGGAAGAAGGAAGGACGGAAAGGA AGGGAAGGAAGGGAAGGAAGGAAGGACGGAAAGGAAGGGAAGGAAGGGAC GGGAGGGAAGGAAGGGAAGAAGGAAG	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
TERT_chr5_1248167_1300068	1272966	A A	ACATCAGA others(345): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGA CCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCA TCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCAC ATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGA CCGCCATCCACAGTCACCACACATCAGACCCCACAACCGCCATCCACAGT CAC	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19084.hp1 NA19063.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0164 a0001c0001t0001g0166	2	392	0.0051	352	c.228 others(369): Show c.2287-687_2287-686insGTGACTGTGGATGGCGGTTGTGGGGTCT GATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGG CGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272966	A A	ACATCAGA others(345): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACC CCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATC CACAGTCACCACACATCAGACCCCACAACCGCCATCCACAGTCACCACAC ATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGA CTGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGT CAC	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	392	0.0026	352	c.228 others(369): Show c.2287-687_2287-686insGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGTGGTGACTGTGGATGGCAGTCGTGGGGTCTGATGTGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTG TGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG TGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGG CGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273640	G G	GACCGCCA others(345): Show GACCGCCATCCACAGTCACCACACATCAGACCCCTGTGACCGATCGCCAT CCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACA TCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCG CCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCAC CACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCC CACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCC ACAGTCACCACACATCAGACCCCACGATCGCCATCCACAGTCACCACACA TCA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	392	0.0026	352	c.228 others(371): Show c.2287-1361_2287-1360insTGATGTGTGGTGACTGTGGATGGCGA TCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTG GATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGG GGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGGTGACTGTGGATGGCGATCGGTCACAGGGGTCT GATGTGTGGTGACTGTGGATGGCGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TET3_chr2_73979910_74113176	74061224	T T	TGGCTGGC others(345): Show TGGCTGGCCGGGCGGGGGGCTGACCCCCCCACTTCCCTCCCGGATGGGGC GGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCAGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGAACGGGGCGGCTGGCAGGGCGGGGGACTGACC CCCCCACCTCCTTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00741.hp1 HG01081.hp2 others(2): Show HG00280.hp1 HG00741.hp1 HG01081.hp2 HG01496.hp1 HG01515.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0052 a0002c0005t0002 a0001c0002t0052 a0002c0005t0002	a0001c0002t0052g0182 a0002c0005t0002g0126 a0002c0005t0002g0127 others(2): Show a0001c0002t0052g0182 a0002c0005t0002g0126 a0002c0005t0002g0127 a0002c0005t0002g0149 a0002c0005t0002g0178	5	252	0.0198	352	c.249 others(373): Show c.2495-12187_2495-12186insCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCAGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGAACGGGGCGGCTGGCAGGGCGGGGGACTGACCCCCCCACCTCCTT CCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACTTCCCTCCCGGATGGGGCGGCTGGCCAGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGG	TET3	ENSG00000187605.16	transcript	ENST00000409262.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TET3_chr2_73979910_74113176	74061224	T T	TGGCTGGC others(345): Show TGGCTGGCCGGGCGGGGGGCTGACCCCCCCACTTCCCTCCCGGATGGGGC GGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCAGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCAGGGCGGGGGACTGACC CCCCCACCTCCTTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01106.hp2 HG01192.hp2 others(30): Show HG00735.hp2 HG01106.hp2 HG01192.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG02280.hp2 HG02559.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 NA18906.hp2 NA19078.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(2): Show a0001c0002 a0001c0003 a0001c0004 a0001c0013 a0001c0014	a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 others(18): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0013 a0001c0002t0014 a0001c0002t0015 a0001c0002t0016 a0001c0002t0017 a0001c0002t0018 a0001c0002t0035 a0001c0002t0042 a0001c0002t0048 a0001c0002t0057 a0001c0003t0010 a0001c0003t0013 a0001c0003t0029 a0001c0004t0002 a0001c0004t0003 a0001c0004t0025 a0001c0013t0054 a0001c0014t0044	a0001c0002t0001g0005 a0001c0002t0001g0135 a0001c0002t0004g0129 others(29): Show a0001c0002t0001g0005 a0001c0002t0001g0135 a0001c0002t0004g0129 a0001c0002t0004g0130 a0001c0002t0004g0132 a0001c0002t0004g0133 a0001c0002t0004g0144 a0001c0002t0005g0072 a0001c0002t0005g0074 a0001c0002t0013g0236 a0001c0002t0014g0001 a0001c0002t0014g0223 a0001c0002t0015g0238 a0001c0002t0015g0243 a0001c0002t0016g0193 a0001c0002t0017g0094 a0001c0002t0018g0137 a0001c0002t0018g0139 a0001c0002t0035g0092 a0001c0002t0042g0013 a0001c0002t0048g0002 a0001c0002t0057g0073 a0001c0003t0010g0107 a0001c0003t0013g0244 a0001c0003t0029g0242 a0001c0004t0002g0006 a0001c0004t0002g0007 a0001c0004t0002g0008 a0001c0004t0003g0240 a0001c0004t0025g0237 a0001c0013t0054g0170 a0001c0014t0044g0004	33	252	0.1310	352	c.249 others(373): Show c.2495-12187_2495-12186insCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCAGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCAGGGCGGGGGACTGACCCCCCCACCTCCTT CCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACTTCCCTCCCGGATGGGGCGGCTGGCCAGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGG	TET3	ENSG00000187605.16	transcript	ENST00000409262.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TET3_chr2_73979910_74113176	74061232	C C	TGGGCGGG others(345): Show TGGGCGGGGGGCTGACCCCCCCACTTCCCTCCCGGATGGGGCGGCTGGCC AGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCAGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGAACGGGGCGGCTGGCAGGGCGGGGGACTGACCCCCCCACC TCCTTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp1 HG00140.hp2 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0079 a0001c0002t0001g0080	2	252	0.0079	352	c.249 others(373): Show c.2495-12318_2495-12317insTGGGCGGGGGGCTGACCCCCCCAC TTCCCTCCCGGATGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCAGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGAACGGGGCGGCTGG CAGGGCGGGGGACTGACCCCCCCACCTCCTTCCCGGACGGGGCGGCTGGC TGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGC	TET3	ENSG00000187605.16	transcript	ENST00000409262.8	protein_coding	4/11			chr2	TogoVar
TET3_chr2_73979910_74113176	74061374	C C	CCCCCCCA others(345): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCAGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCAGGGCGGGGGGACTGAC CCCCCCACCTCCTTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACTTCCCTCCCGGATGG GGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0230 a0001c0002t0003g0230	1	252	0.0040	352	c.249 others(373): Show c.2495-12083_2495-12082insGACTGACCCCCCCACCTCCTTCCC GGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACTTCCCTCCCGGATGGGGCGGCTGGCCAGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCAGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCAGGGCGGGGG	TET3	ENSG00000187605.16	transcript	ENST00000409262.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TET3_chr2_73979910_74113176	74061395	C C	TGGGGCGG others(345): Show TGGGGCGGCTGGCAGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCAGGGCGGGGGACTGACCCCCCCACCTCCTTCCCGGACG GGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCCACTTCCCTCCCGGATGGGGCGGCTGGCCAGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCG GAC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0217 a0001c0002t0006g0217	1	252	0.0040	352	c.249 others(373): Show c.2495-12155_2495-12154insTGGGGCGGCTGGCAGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCAGGGCGGGGGAC TGACCCCCCCACCTCCTTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACTTCCCTCCCG GATGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCACCTCCCTCCCGGA	TET3	ENSG00000187605.16	transcript	ENST00000409262.8	protein_coding	4/11			chr2	TogoVar
TET3_chr2_73979910_74113176	74061577	G G	GGCTGGCC others(345): Show GGCTGGCCGGGCGGGGGGCTGACCCCCCCACTTCCCTCCCGGATGGGGCG GCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCAGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCAGGGCGGGGGACTGACCC CCCCACCTCCTTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GCA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00673.hp2 HG01123.hp1 others(5): Show HG00323.hp1 HG00673.hp2 HG01123.hp1 HG01255.hp2 HG02735.hp1 HG03654.hp2 HG03942.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 others(2): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0036 a0001c0002t0055	a0001c0002t0002g0087 a0001c0002t0002g0093 a0001c0002t0002g0128 others(5): Show a0001c0002t0002g0087 a0001c0002t0002g0093 a0001c0002t0002g0128 a0001c0002t0002g0175 a0001c0002t0005g0065 a0001c0002t0007g0174 a0001c0002t0036g0089 a0001c0002t0055g0145	8	252	0.0318	352	c.249 others(373): Show c.2495-11944_2495-11943insACTTCCCTCCCGGATGGGGCGGCT GGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCAGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCAGGGCGGGGGACTGACCCCCC CACCTCCTTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCA GCTGGCCGGGCGGGGGGCTGACCCCCCC	TET3	ENSG00000187605.16	transcript	ENST00000409262.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TM4SF19_chr3_196318547_196343388	196334965	G G	GATGCCCT others(345): Show GATGCCCTGAGAAGGTGGGGGTTGGAGAGGGGAGGGGTGCTCTGGGAGGG TGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTGGAGAGG GGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCTGA GAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCTCTGGGAGGGTGGGTGTAG GAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTGGAGAGGGGAGGGGTG CACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGG GGTTGGAGAGGGGAGGGGTGCTCTGGGAGGGTGGGTGTAGGAGAGGGAAG GGA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	370	0.0027	352	c.-2+ others(367): Show c.-2+3298_-2+3299insTCCCTTCCCTCTCCTACACCCACCCTCCCA GAGCACCCCTCCCCTCTCCAACCCCCACCTTCTCAGGGCATCCCTTCCCT CTCCTACACCCACCCTCCCAGTGCACCCCTCCCCTCTCCAACCCCCACCT TCTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTCCCAGAGCACCCCT CCCTTCTCCTAACCCCCACCTTCTCAGGGCATCCCTTCCCTCTCCTACAC CCACCCTCCCAGTGCACCCCTCCCCTCTCCAACCCCCACCTTCTCAGGGC ATCCCTTCCCTCTCCTACACCCACCCTCCCAGAGCACCCCTCCCCTCTCC AACCCCCACCTTCTCAGGGCAT	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
TMC1_chr9_72516608_72843297	72840508	G G	GGGGCGGC others(345): Show GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCTCCCCACCTCCCTCCCGGACCGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGG ACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0182 a0001c0003t0007g0182	1	182	0.0055	352	c.45 others(363): Show c.4535_*4536insGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACCGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCTCC CCACCTCCCTCCCGGACC	TMC1	ENSG00000165091.18	transcript	ENST00000297784.10	protein_coding		2212		chr9	TogoVar
TMEM14A_chr6_52666113_52691588	52672314	C C	CAAGAGAA others(345): Show CAAGAGAAGATCGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAAAAAAAATACA AAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTG AGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0297 a0001c0001t0002g0297	1	426	0.0024	352	c.-17 others(369): Show c.-17+1085_-17+1086insCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAAAAAAA ATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTG CAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAGAGAAGATCGCAGG	TMEM14A	ENSG00000096092.6	transcript	ENST00000211314.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
TMEM202_chr15_72393305_72413367	72396769	T T	TGGGGGGT others(345): Show TGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGAGTCAGCCCCCCGCCCGG CCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGA GGTGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 NA18964.hp2 HG01981.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	396	0.0051	352	c.-15 others(363): Show c.-1558_-1557insGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGAGT CAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTG CCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCATCCGGGAGGGAGGTGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTG	TMEM202	ENSG00000187806.9	transcript	ENST00000341689.4	protein_coding		1535		chr15	TogoVar
TMEM240_chr1_1529778_1545624	1543725	C C	CCTCTGTC others(345): Show CCTCTGTCACGGCCTCGGCCACTCCCCTCTGTCACGGCCTCGGCCACTCC CCACTGTCACGGCCTCGGCCACTCCCCTCTGTCACGGCCTCGGCCACTCC CCACTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCC CCTCTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCC CCTCTGTCACGGCCTCGGCCACTCCCCTCTGTCACGGCCTCGGCCACTCC CCACTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCC CCTCTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCC CCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG03098.hp1 HG01884.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0069 a0001c0001t0013g0072 a0001c0001t0013g0069 a0001c0001t0013g0072	2	428	0.0047	352	c.-33 others(363): Show c.-3380_-3379insAGGGGAGTGGCCGAGGCCGTGACAGTGGGGAGTG GCCGAGGCCGTGACAGAGGGGAGTGGCCGAGGCCGTGACAGTGGGGAGTG GCCGAGGCCGTGACAGTGGGGAGTGGCCGAGGCCGTGACAGAGGGGAGTG GCCGAGGCCGTGACAGAGGGGAGTGGCCGAGGCCGTGACAGTGGGGAGTG GCCGAGGCCGTGACAGAGGGGAGTGGCCGAGGCCGTGACAGTGGGGAGTG GCCGAGGCCGTGACAGTGGGGAGTGGCCGAGGCCGTGACAGAGGGGAGTG GCCGAGGCCGTGACAGTGGGGAGTGGCCGAGGCCGTGACAGAGGGGAGTG GCCGAGGCCGTGACAGAG	TMEM240	ENSG00000205090.10	transcript	ENST00000378733.9	protein_coding		3102		chr1	TogoVar
TMPRSS6_chr22_37060436_37114713	37097753	C C	CGGCCACC others(345): Show CGGCCACCGTCCTGTAACGGAGGGGGAAGAGCGGGTCACCGTCCTGTAAC GGAGGGGGAGGAGAGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGC CACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAG GGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACC GTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGGGC AGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCC TGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGGA GCG	intron_variant intron_variant	MODIFIER	HG01070.hp1 NA18948.hp1 NA18998.hp2 others(3): Show HG01070.hp1 NA18948.hp1 NA18998.hp2 NA19077.hp1 NA19085.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0009 a0003c0018 a0003c0023 a0001c0009 a0003c0018 a0003c0023	a0001c0009t0001 a0003c0018t0001 a0003c0023t0001 a0001c0009t0001 a0003c0018t0001 a0003c0023t0001	a0001c0009t0001g0001 a0001c0009t0001g0052 a0003c0018t0001g0204 others(2): Show a0001c0009t0001g0001 a0001c0009t0001g0052 a0003c0018t0001g0204 a0003c0018t0001g0205 a0003c0023t0001g0050	6	348	0.0172	352	c.336 others(367): Show c.336+662_336+663insCGCTCCTGCCCCTCCGTTACAGGACGGTGG CCCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCGCTCCTGCCCCTCCG TTACAGGACGGTGGCCCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCG CTCCTGCCCCTCCGTTACAGGACGGTGGCCCGCTCCTGCCCCTCCGTTAC AGGACGGTGGCCCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCGCTCC TGCCCCTCCGTTACAGGACGGTGGCCCGCTCCTGCCCCTCCGTTACAGGA CGGTGGCCCTCTCCTCCCCCTCCGTTACAGGACGGTGACCCGCTCTTCCC CCTCCGTTACAGGACGGTGGCC	TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	3/17			chr22	TogoVar
TMPRSS6_chr22_37060436_37114713	37097753	C C	CGGCCACC others(345): Show CGGCCACCGTCCTGTAACGGAGGGGGAGGAGCGGGTCACCGTCCTGTAAC GGAGGGGGAGGAGAGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGC CACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAG GGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACC GTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGGGC AGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCC TGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGGA GCG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0022 a0001c0007t0001g0022	1	348	0.0029	352	c.336 others(367): Show c.336+662_336+663insCGCTCCTGCCCCTCCGTTACAGGACGGTGG CCCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCGCTCCTGCCCCTCCG TTACAGGACGGTGGCCCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCG CTCCTGCCCCTCCGTTACAGGACGGTGGCCCGCTCCTGCCCCTCCGTTAC AGGACGGTGGCCCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCGCTCC TGCCCCTCCGTTACAGGACGGTGGCCCGCTCCTGCCCCTCCGTTACAGGA CGGTGGCCCTCTCCTCCCCCTCCGTTACAGGACGGTGACCCGCTCCTCCC CCTCCGTTACAGGACGGTGGCC	TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	3/17			chr22	TogoVar
TMPRSS9_chr19_2355265_2431261	2377592	C C	CTCTCCCC others(345): Show CTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCCCCCTCCTCTCCCCTCCC CTCTCCCCTCCCTCTCCCCTCCCCTCTCCCCTCTCCCTCCCCTTCTCTCT CCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCT CTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTCGCC CTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCTCCCC TCCCCTCCCATCTCCCCTCTCATCTCCCCTCTCCCTCCTCTCCCCTTCCC TCCCGTCCCCTCTCCCCCTCTCCCCTTCCCTCCCCTCCCCTCCCTCCTCC CCT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0013 a0013	a0013c0025 a0013c0025	a0013c0025t0002 a0013c0025t0002	a0013c0025t0002g0020 a0013c0025t0002g0020	1	114	0.0088	352	c.-25 others(371): Show c.-25-12167_-25-12166insTCCCCTCCCCTCTCCCCTCCCCTCTC CCCCCCCTCCTCTCCCCTCCCCTCTCCCCTCCCTCTCCCCTCCCCTCTCC CCTCTCCCTCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTC CCCTCTCTCCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCT CCCCTCTCCCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTC CCTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCC TCTCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCCTCTCCCCTTCC CTCCCCTCCCCTCCCTCCTCCCCTTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TOP3A_chr17_18266428_18319994	18298410	T T	TCCCCGTC others(345): Show TCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGAAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCAGCCGGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGTCCCTCTGCCCGGCC AGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCA GCCGCTCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAG CAG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0054 a0001c0002t0004g0054	1	388	0.0026	352	c.990 others(369): Show c.990+1148_990+1149insCTGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGATGGAGCGGCTGGCTGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGACTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CCGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTTCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGATC CCCCCACCTCCCTCCCGGACGGGG	TOP3A	ENSG00000177302.16	transcript	ENST00000321105.10	protein_coding	9/18			chr17	TogoVar
TPCN2_chr11_69043932_69095597	69069707	T T	TGGGAGCA others(345): Show TGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGA CCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACTGTCTGAGTC CTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGCAAGTGA CACAGGGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAATGGGAG CAGGACCGTCTGAGTCCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTC TGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGG AAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCA CTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0009 a0004c0006t0009	a0004c0006t0009g0213 a0004c0006t0009g0213	1	404	0.0025	352	c.830 others(367): Show c.830-686_830-685insGTGGGAGCAGGACCGTCTGAGTCCTAGGAA GTGACCGCAGTGGGAGCAGGACTGTCTGAGTCCTAGGAAGTGACCGCAGT GGGAGCAGGACCGTCTGAGTCCTAGCAAGTGACACAGGGGGAGCAGGACC GTCTGAGTCCTAGGAAGTGACCGCAATGGGAGCAGGACCGTCTGAGTCCC TAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGAC CGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAG CAGGACCGTCTGAGTCCTAGGAAGTGACCGCACTGGGGAGCAGGACCGTC TGAGTCCTAGGAAGTGACCGCA	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TRAPPC3L_chr6_116489989_116550684	116522977	T T	TAAAATGT others(345): Show TAAAATGTGGATTGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	360	0.0028	352	c.240 others(371): Show c.240+17385_240+17386insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCAGCAATCCACATTTT	TRAPPC3L	ENSG00000173626.10	transcript	ENST00000368602.4	protein_coding	3/4			chr6	TogoVar
TRAPPC9_chr8_139722725_140462744	139748077	G G	GGGAGGTG others(345): Show GGGAGGTGTGCAGGGATCAGAGAAGATGCAGGGGGTATACACAGCAGGTG TCAGAGCAGGTAGGGGGGCGTACAGGGGTCAGAGTGGGTGTGGGGGTGTC CCGGGGTCAGAGCAGGTGGGAGGTGTGCAGGGATCAGAGAAGATGCAGGG GGTATACACAGCAGGTGTCAGAGCAGGTAGGGGGGCGTACAGGGGTCAGA GTGGGTGTGGGGGTGTCCCGGGGTCAGAGCAGGTGGGGAGGTGTGCAGGG ATCAGAGAAGATGCAGGGGGTATACACAGCAGGTGTCAGAGCAGGTAGGG GGGGCATACAGGGGTCAGAGTGGGTGTGAGGGTGTCCCGGGGTCAGAGCA GGT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0044 a0001c0002t0003g0044	1	98	0.0102	352	c.305 others(373): Show c.3056-15876_3056-15875insACCTGCTCTGACCCCGGGACACCC TCACACCCACTCTGACCCCTGTATGCCCCCCCTACCTGCTCTGACACCTG CTGTGTATACCCCCTGCATCTTCTCTGATCCCTGCACACCTCCCCACCTG CTCTGACCCCGGGACACCCCCACACCCACTCTGACCCCTGTACGCCCCCC TACCTGCTCTGACACCTGCTGTGTATACCCCCTGCATCTTCTCTGATCCC TGCACACCTCCCACCTGCTCTGACCCCGGGACACCCCCACACCCACTCTG ACCCCTGTACGCCCCCCTACCTGCTCTGACACCTGCTGTGTATACCCCCT GCATCTTCTCTGATCCCTGCACACCTCC	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	21/22			chr8	TogoVar
TRIM48_chr11_55257155_55276114	55273308	T T	TTATATAT others(345): Show TTATATATAAAAATTATATATATATTATATATATAAAAATTATATATATA TTATATATATAAAAATTATATATATATTATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0026 a0001c0003t0001g0026	1	272	0.0037	352	c.28 others(363): Show c.2873_*2874insTATATATAAAAATTATATATATATTATATATATA AAAATTATATATATATTATATATATAAAAATTATATATATATTATATATA TAAAAATTATATATATATTATATATATAAAAATTATATATATATTATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2195		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273323	T T	TTATATAT others(345): Show TTATATATATATTATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATAAAAATTATATATATTATATATATAAAAATTATATAT ATATTATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATTATATATATATAAAAATTATATATATTATATATATATAAAAATT ATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	272	0.0037	352	c.28 others(363): Show c.2888_*2889insTATATATATATTATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATAAAAATTATATATATTATATAT ATAAAAATTATATATATATTATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATTATATATATATAAAAATTATATATATTAT ATATATATAAAAATTATA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2210		chr11	TogoVar
TRPC4AP_chr20_34997404_35097807	35097648	T T	TACATATA others(345): Show TACATATACACGCGTGCGTATATACATATACACGCGTGCGTATATACATA TACACGCGTGCGTATATACATATACACGCGTGCGTATATATACATATACA CGCGTGCGTATATATACATATACACGCGTGCGTATATATACATATACACG CGTGCGTATATATACATATACACGCGTGCGTATATATACATATACACGCG TGCGTATATATACATATACACGCGTGCGTATATATACATATACACGCGTG CGTATATATACATATACACGCGTGCGTATATATACATATACACGCGTGCG TATACACACATATACACGCGTGCGTATACACACATATACACGCGTGCGTA TAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0164 a0003c0006t0002g0164	1	334	0.0030	352	c.-48 others(363): Show c.-4868_-4867insGTATACGCACGCGTGTATATGTGTGTATACGCAC GCGTGTATATGTGTGTATACGCACGCGTGTATATGTATATATACGCACGC GTGTATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGT GTATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGT ATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTAT ATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTATAT GTATATACGCACGCGTGTATATGTATATACGCACGCGTGTATATGTATAT ACGCACGCGTGTATATGT	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4842		chr20	TogoVar
TRPC4AP_chr20_34997404_35097807	35097652	C C	CATATACA others(345): Show CATATACACGCGTGCGTATATACATATACACGCGTGCGTATATACATATA CACGCGTGCGTATATACATATACACGCGTGCGTATATACATATACACGCG TGCGTATATATACATATACACGCGTGCGTATATATACATATACACGCGTG CGTATATATACATATACACGCGTGCGTATATATACATATACACGCGTGCG TATATATACATATACACGCGTGCGTATATATACATATACACGCGTGCGTA TATATACATATACACGCGTGCGTATATATACATATACACGCGTGCGTATA TATACATATACACGCGTGCGTATATATACATATACACGCGTGCGTATACA CAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	334	0.0030	352	c.-48 others(363): Show c.-4872_-4871insATGTGTATACGCACGCGTGTATATGTATATATAC GCACGCGTGTATATGTATATATACGCACGCGTGTATATGTATATATACGC ACGCGTGTATATGTATATATACGCACGCGTGTATATGTATATATACGCAC GCGTGTATATGTATATATACGCACGCGTGTATATGTATATATACGCACGC GTGTATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGT GTATATGTATATATACGCACGCGTGTATATGTATATACGCACGCGTGTAT ATGTATATACGCACGCGTGTATATGTATATACGCACGCGTGTATATGTAT ATACGCACGCGTGTATAT	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4846		chr20	TogoVar
TRPC6_chr11_101446564_101589007	101558204	T T	TGTATACA others(345): Show TGTATACATGTATACATGTATATATGTATACATGTATACATGTATACATG TATACATGTATACGGGTATACATGTATATATGTATACATGTATACGGGTA TACATGTATATATGTATACATGTATACGGGTATACATGTATATATGTATA CATGTATACGGGTATACATGTATATATGTATACATGTATACGGGTATACA TGTATATATGTATACATGTATACGGGTATACATGTATATATGTATACATG TATACGGGTATACATGTATATATGTATACATGTATACGGGTATACATGTA TATATGTATACATGTATACGGGTATACATGTATATATGTATACATGTATA CGG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0228 a0001c0002t0004g0229 a0001c0002t0004g0228 a0001c0002t0004g0229	2	252	0.0079	352	c.170 others(371): Show c.170+25129_170+25130insCCGTATACATGTATACATATATACAT GTATACCCGTATACATGTATACATATATACATGTATACCCGTATACATGT ATACATATATACATGTATACCCGTATACATGTATACATATATACATGTAT ACCCGTATACATGTATACATATATACATGTATACCCGTATACATGTATAC ATATATACATGTATACCCGTATACATGTATACATATATACATGTATACCC GTATACATGTATACATATATACATGTATACCCGTATACATGTATACATAT ATACATGTATACCCGTATACATGTATACATGTATACATGTATACATGTAT ACATATATACATGTATACATGTATAC	TRPC6	ENSG00000137672.13	transcript	ENST00000344327.8	protein_coding	1/12			chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(345): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TATACACAAGTGTGTATATACGCATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACACATATATGTGTG TGTATACGCATACACACACATATGTGTGTGTATACGCATACACACATATG TGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACA TATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATA CACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATA CGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0216 a0001c0006t0001g0216	1	320	0.0031	352	c.-38 others(363): Show c.-3848_-3847insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATATACACAAGTGTGTATATACGCATACACACATAT ATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACAC ACACATATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATAC GCATACACACATATGTGTGTGTATACGCATACACACATATATGTGTGTGT ATACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGT GTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACAT ATATGTGTGTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar

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