Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

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
RSPH6A_chr19_45790713_45820308	45800756	ACACACAC others(13): Show ACACACACACACACACACACT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG02080.hp1 others(22): Show HG00140.hp2 HG00280.hp2 HG02080.hp1 HG02135.hp2 HG02165.hp1 HG02698.hp2 NA18940.hp1 NA18943.hp2 NA18945.hp2 NA18947.hp2 NA18951.hp2 NA18955.hp2 NA18961.hp1 NA18962.hp2 NA18965.hp2 NA18972.hp2 NA18978.hp1 NA18984.hp2 NA18985.hp1 NA18993.hp2 NA18994.hp1 NA19000.hp1 NA19068.hp2 NA19085.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0047 a0001c0001t0001g0048 others(17): Show a0001c0001t0001g0022 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0152 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0235 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283	25	422	0.0592	-20	c.179 others(37): Show c.1799-213_1799-194delAGTGTGTGTGTGTGTGTGTG	RSPH6A	ENSG00000104941.8	transcript	ENST00000221538.8	protein_coding	4/5			chr19	TogoVar
RSPO2_chr8_107894316_108088620	108003297	ATATATAT others(13): Show ATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0215 a0001c0001t0020g0215	1	238	0.0042	-20	c.95- others(37): Show c.95-14073_95-14054delAAAAAATATATATATATATA	RSPO2	ENSG00000147655.12	transcript	ENST00000276659.10	protein_coding	2/5			chr8	TogoVar
RSPO2_chr8_107894316_108088620	108003303	ATATATAT others(13): Show ATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0015 a0001c0004t0015	a0001c0004t0015g0005 a0001c0004t0015g0005	1	224	0.0045	-20	c.95- others(37): Show c.95-14079_95-14060delAAAAAAAAAAAATATATATA	RSPO2	ENSG00000147655.12	transcript	ENST00000276659.10	protein_coding	2/5			chr8	TogoVar
RSPO2_chr8_107894316_108088620	108029054	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01261.hp1 HG02451.hp2 others(16): Show HG01071.hp2 HG01261.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02647.hp2 HG02723.hp1 HG02886.hp2 HG02897.hp1 HG03098.hp1 HG03139.hp2 HG03225.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03831.hp2 NA19030.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 a0002c0002t0001	a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 others(16): Show a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0096 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0003g0067 a0001c0001t0003g0093 a0001c0001t0004g0238 a0001c0001t0008g0217 a0001c0001t0008g0219 a0001c0001t0008g0220 a0001c0001t0013g0008 a0002c0002t0001g0048 a0002c0002t0001g0058	19	39	0.4872	-20	c.95- others(37): Show c.95-39830_95-39811delAAAAAAAAAAAAAAAAAAAA	RSPO2	ENSG00000147655.12	transcript	ENST00000276659.10	protein_coding	2/5			chr8	TogoVar
RSPO3_chr6_127113671_127204481	127117930	GAAAGAGA others(13): Show GAAAGAGAAAGAAAGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02818.hp2 HG02896.hp2 HG02257.hp1 HG02818.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 a0001c0001t0002 a0001c0001t0006 a0001c0001t0014	a0001c0001t0002g0089 a0001c0001t0006g0239 a0001c0001t0014g0141 a0001c0001t0002g0089 a0001c0001t0006g0239 a0001c0001t0014g0141	3	305	0.0098	-20	c.-12 others(31): Show c.-1262_-1243delAAAGAGAAAGAAAGAAAGAA	RSPO3	ENSG00000146374.14	transcript	ENST00000356698.9	protein_coding		740		chr6	TogoVar
RSPO3_chr6_127113671_127204481	127117934	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 NA18982.hp2 NA21309.hp1 HG02074.hp2 NA18982.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0023 a0001c0002t0001g0030 a0001c0002t0001g0031	3	174	0.0172	-20	c.-12 others(31): Show c.-1258_-1239delAGAAAGAAAGAAAGAAAGAA	RSPO3	ENSG00000146374.14	transcript	ENST00000356698.9	protein_coding		736		chr6	TogoVar
RSPO3_chr6_127113671_127204481	127117990	AAGAAAGA others(13): Show AAGAAAGAAAGAAAGAAAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01496.hp1 HG01943.hp1 others(5): Show HG01361.hp1 HG01496.hp1 HG01943.hp1 HG01978.hp2 HG03471.hp2 HG04184.hp2 NA19084.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0019	a0001c0001t0002g0072 a0001c0001t0002g0098 a0001c0001t0002g0108 others(5): Show a0001c0001t0002g0072 a0001c0001t0002g0098 a0001c0001t0002g0108 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0003g0253 a0001c0001t0007g0146 a0001c0001t0019g0019	8	306	0.0261	-20	c.-12 others(31): Show c.-1202_-1183delAGAAAGAAAGAAAGAAAGAG	RSPO3	ENSG00000146374.14	transcript	ENST00000356698.9	protein_coding		680		chr6	TogoVar
RSRC1_chr3_158105089_158550730	158194054	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00408.hp1 others(120): Show HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG04199.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp2 NA18961.hp2 NA18962.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18983.hp1 NA18984.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp2 NA19000.hp2 NA19004.hp1 NA19011.hp1 NA19057.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19070.hp1 NA19072.hp2 NA19079.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0031 a0003c0005t0013	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(120): Show a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0187 a0001c0001t0001g0202 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0228 a0001c0001t0001g0244 a0001c0001t0001g0254 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0071 a0001c0001t0002g0095 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0255 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0003g0058 a0001c0001t0003g0091 a0001c0001t0004g0078 a0001c0001t0005g0056 a0001c0001t0005g0065 a0001c0001t0006g0027 a0001c0001t0006g0028 a0001c0001t0006g0029 a0001c0001t0006g0030 a0001c0001t0006g0219 a0001c0001t0006g0232 a0001c0001t0006g0245 a0001c0001t0007g0276 a0001c0001t0008g0090 a0001c0001t0008g0094 a0001c0001t0010g0168 a0001c0001t0010g0172 a0001c0001t0010g0181 a0001c0001t0010g0182 a0001c0001t0010g0183 a0001c0001t0010g0184 a0001c0001t0010g0188 a0001c0001t0010g0214 a0001c0001t0012g0031 a0001c0001t0013g0019 a0001c0001t0013g0275 a0001c0001t0016g0098 a0001c0001t0016g0154 a0001c0001t0023g0104 a0001c0001t0023g0106 a0001c0001t0024g0223 a0001c0001t0025g0175 a0001c0001t0026g0107 a0001c0001t0028g0185 a0001c0001t0031g0081 a0003c0005t0013g0043	123	129	0.9535	-20	c.321 others(37): Show c.321-8988_321-8969delCACACACACACACACACACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158228749	TTATATAT others(13): Show TTATATATGTGTGTGTGTATA	T T	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	274	0.0036	-20	c.494 others(39): Show c.494+25530_494+25549delATGTGTGTGTGTATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC2_chr12_122498454_122531936	122509306	CAGGCGTG others(13): Show CAGGCGTGGTGGCAGGCGCCT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18522.hp1 HG02145.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0133 a0001c0001t0012g0136 a0001c0001t0012g0133 a0001c0001t0012g0136	2	380	0.0053	-20	c.806 others(35): Show c.806-879_806-860delAGGCGCCTGCCACCACGCCT	RSRC2	ENSG00000111011.18	transcript	ENST00000331738.12	protein_coding	7/9			chr12	TogoVar
RTF1_chr15_41412095_41488563	41426779	ATATGTGT others(13): Show ATATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0208 a0001c0001t0005g0208	1	188	0.0053	-20	c.198 others(37): Show c.198+9468_198+9487delATGTGTGTGTGTGTGTGTGT	RTF1	ENSG00000137815.15	transcript	ENST00000389629.9	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
RTF2_chr20_56463627_56524449	56515595	GAGAGACA others(13): Show GAGAGACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00423.hp1 others(171): Show HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01884.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02300.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG03130.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(124): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0174 a0001c0001t0001g0183 a0001c0001t0001g0282 a0001c0001t0003g0010 a0001c0001t0003g0071 a0001c0001t0003g0091 a0001c0001t0004g0020 a0001c0001t0004g0078 a0001c0001t0005g0113 a0001c0001t0005g0114 a0001c0001t0006g0074 a0001c0001t0007g0118 a0001c0006t0001g0095	174	350	0.4971	-20	c.592 others(37): Show c.592-1338_592-1319delGAGACACACACACACACACA	RTF2	ENSG00000022277.13	transcript	ENST00000357348.10	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
RTF2_chr20_56463627_56524449	56515597	GAGACACA others(13): Show GAGACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03831.hp1 NA19091.hp1 HG01891.hp1 HG03831.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0109 a0001c0001t0001g0125 a0001c0001t0001g0026 a0001c0001t0001g0109 a0001c0001t0001g0125	3	344	0.0087	-20	c.592 others(37): Show c.592-1336_592-1317delGACACACACACACACACACA	RTF2	ENSG00000022277.13	transcript	ENST00000357348.10	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
RTKN2_chr10_62188086_62273844	62195606	TGAAGGAA others(13): Show TGAAGGAAGGAAGGAAGGAAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01123.hp2 HG01891.hp1 HG02572.hp2 others(4): Show HG01123.hp2 HG01891.hp1 HG02572.hp2 HG02818.hp2 HG03471.hp2 HG03942.hp1 NA18522.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0003 a0003c0002 a0004c0004 a0002c0003 a0003c0002 a0004c0004	a0002c0003t0029 a0002c0003t0065 a0002c0003t0067 others(3): Show a0002c0003t0029 a0002c0003t0065 a0002c0003t0067 a0002c0003t0079 a0003c0002t0056 a0004c0004t0060	a0002c0003t0029g0161 a0002c0003t0029g0164 a0002c0003t0065g0167 others(4): Show a0002c0003t0029g0161 a0002c0003t0029g0164 a0002c0003t0065g0167 a0002c0003t0067g0160 a0002c0003t0079g0199 a0003c0002t0056g0126 a0004c0004t0060g0206	7	42	0.1667	-20	c.22 others(31): Show c.2282_*2301delCTTCCTTCCTTCCTTCCTTC	RTKN2	ENSG00000182010.11	transcript	ENST00000373789.8	protein_coding	12/12	2282		chr10	TogoVar
RTL1_chr14_100874753_100908722	100901291	ACGCACAC others(13): Show ACGCACACGCACAGACATGCG	A A	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0007 a0003c0005t0007	a0003c0005t0007g0063 a0003c0005t0007g0063	1	428	0.0023	-20	c.-14 others(39): Show c.-149+1980_-149+1999delCGCATGTCTGTGCGTGTGCG	RTL1	ENSG00000254656.3	transcript	ENST00000649591.1	protein_coding	2/3			chr14	TogoVar
RTL4_chrX_112078016_112462514	112190188	CTTTCTTT others(13): Show CTTTCTTTCTTTCTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0076 a0002c0001t0001g0076	1	132	0.0076	-20	c.-44 others(41): Show c.-445+59090_-445+59109delTCTTTCTTTCTTTCTTTTTT	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTL4_chrX_112078016_112462514	112419337	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG04199.hp1 NA18943.hp1 others(1): Show HG02300.hp1 HG04199.hp1 NA18943.hp1 NA18995.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0002c0001t0001 a0001c0002t0002 a0002c0001t0001	a0001c0002t0002g0081 a0001c0002t0002g0087 a0002c0001t0001g0061 others(1): Show a0001c0002t0002g0081 a0001c0002t0002g0087 a0002c0001t0001g0061 a0002c0001t0001g0065	4	28	0.1429	-20	c.-28 others(41): Show c.-284-11755_-284-11736delTTTTTTTTTTTTTTTTTTTT	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTN1_chr14_59590983_59875776	59819412	CCACCCCC others(13): Show CCACCCCCCCCCCACCCCCCA	C C	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02040.hp1 HG02155.hp2 others(7): Show HG01952.hp1 HG02040.hp1 HG02155.hp2 HG02630.hp1 HG02717.hp1 HG02896.hp2 HG03209.hp2 NA18612.hp1 NA19009.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0044 a0001c0001t0001g0104 others(7): Show a0001c0001t0001g0022 a0001c0001t0001g0044 a0001c0001t0001g0104 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164	10	164	0.0610	-20	c.241 others(39): Show c.241+50958_241+50977delTGGGGGGTGGGGGGGGGGTG	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN1_chr14_59590983_59875776	59819414	ACCCCCCC others(13): Show ACCCCCCCCCCACCCCCCACC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG01952.hp2 others(1): Show HG00099.hp1 HG00280.hp2 HG01952.hp2 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0035 others(1): Show a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036	4	107	0.0374	-20	c.241 others(39): Show c.241+50956_241+50975delGGTGGGGGGTGGGGGGGGGG	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN2_chr19_45480294_45502047	45492173	ACTCAAAT others(13): Show ACTCAAATTTCTGACCCCTTT	A A	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0002 a0007c0013t0002	a0007c0013t0002g0209 a0007c0013t0002g0209	1	430	0.0023	-20	c.103 others(37): Show c.1033+967_1033+986delAAAGGGGTCAGAAATTTGAG	RTN2	ENSG00000125744.12	transcript	ENST00000245923.9	protein_coding	5/10			chr19	TogoVar
RTP5_chr2_241864729_241878823	241865060	TGGTGTGT others(13): Show TGGTGTGTGTCGTGTGTGTAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00544.hp2 others(85): Show HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00639.hp2 HG00741.hp2 HG01081.hp2 HG01175.hp2 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG03492.hp2 HG03669.hp1 NA18612.hp2 NA18747.hp1 NA18943.hp2 NA18946.hp1 NA18947.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18990.hp1 NA18998.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19079.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA20905.hp2	a0002 a0023 a0002 a0023	a0002c0002 a0023c0026 a0002c0002 a0023c0026	a0002c0002t0001 a0002c0002t0010 a0002c0002t0014 others(8): Show a0002c0002t0001 a0002c0002t0010 a0002c0002t0014 a0002c0002t0017 a0002c0002t0027 a0002c0002t0028 a0002c0002t0030 a0002c0002t0035 a0002c0002t0036 a0002c0002t0037 a0023c0026t0025	a0002c0002t0001g0002 a0002c0002t0001g0013 a0002c0002t0001g0014 others(14): Show a0002c0002t0001g0002 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0023 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0010g0002 a0002c0002t0014g0002 a0002c0002t0017g0002 a0002c0002t0017g0013 a0002c0002t0027g0002 a0002c0002t0028g0002 a0002c0002t0030g0002 a0002c0002t0035g0002 a0002c0002t0036g0002 a0002c0002t0037g0002 a0023c0026t0025g0002	88	364	0.2418	-20	c.-46 others(31): Show c.-4696_-4677delGGTGTGTGTCGTGTGTGTAG	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4668		chr2	TogoVar
RTP5_chr2_241864729_241878823	241873656	CCCCGCCC others(13): Show CCCCGCCCCCCGCCTCCGAGA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0035 a0002c0002t0035	a0002c0002t0035g0002 a0002c0002t0035g0002	1	364	0.0027	-20	c.38 others(29): Show c.386_*405delGCCCCCCGCCTCCGAGACCC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding	2/2	386	INFO_REALIGN_3_PRIME	chr2	TogoVar
RTP5_chr2_241864729_241878823	241877616	CCGGCCAC others(13): Show CCGGCCACCGCTCAGCTCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0003 a0004c0004t0001g0003	1	364	0.0027	-20	c.43 others(31): Show c.4343_*4362delCGGCCACCGCTCAGCTCCCT	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		3794		chr2	TogoVar
RTTN_chr18_69998031_70210687	70080928	TCACACAC others(13): Show TCACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0008 a0001c0008t0008	a0001c0008t0008g0118 a0001c0008t0008g0118	1	28	0.0357	-20	c.437 others(39): Show c.4375-5407_4375-5388delTGTGTGTGTGTGTGTGTGTG	RTTN	ENSG00000176225.15	transcript	ENST00000640769.2	protein_coding	32/48			chr18	TogoVar
RUBCNL_chr13_46329681_46392252	46362923	CATATATA others(13): Show CATATATATATATATAGATAT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02922.hp2 HG02970.hp2 others(3): Show HG01074.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 NA19240.hp2 NA20300.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0013 a0003c0003t0027 a0003c0003t0060 a0003c0003t0013 a0003c0003t0027 a0003c0003t0060	a0003c0003t0013g0006 a0003c0003t0027g0172 a0003c0003t0060g0171 a0003c0003t0013g0006 a0003c0003t0027g0172 a0003c0003t0060g0171	6	124	0.0484	-20	c.925 others(35): Show c.925+172_925+191delATATCTATATATATATATAT	RUBCNL	ENSG00000102445.20	transcript	ENST00000429979.6	protein_coding	6/14			chr13	TogoVar
RUFY2_chr10_68338408_68412277	68376442	GTATATAT others(13): Show GTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp2 NA18989.hp2 HG02280.hp2 HG02630.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0102 a0001c0001t0011g0172 a0001c0001t0011g0178 a0001c0001t0001g0102 a0001c0001t0011g0172 a0001c0001t0011g0178	3	201	0.0149	-20	c.132 others(37): Show c.1325+391_1325+410delTATATATATATATATATATA	RUFY2	ENSG00000204130.14	transcript	ENST00000602465.6	protein_coding	13/17			chr10	TogoVar
RUNDC3B_chr7_87623398_87837296	87736873	ATATATAT others(13): Show ATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0196 a0001c0001t0052g0196	1	187	0.0053	-20	c.459 others(37): Show c.459-2916_459-2897delATATATATATATATATTTTT	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87736875	ATATATAT others(13): Show ATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01069.hp2 HG01071.hp2 others(9): Show HG00280.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01346.hp1 HG01433.hp2 HG03017.hp1 HG03491.hp1 HG03492.hp1 HG04184.hp1 HG04228.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0011 a0001c0001t0028 others(3): Show a0001c0001t0009 a0001c0001t0011 a0001c0001t0028 a0001c0001t0030 a0001c0001t0058 a0001c0001t0061	a0001c0001t0009g0002 a0001c0001t0009g0191 a0001c0001t0009g0193 others(9): Show a0001c0001t0009g0002 a0001c0001t0009g0191 a0001c0001t0009g0193 a0001c0001t0009g0197 a0001c0001t0011g0189 a0001c0001t0011g0194 a0001c0001t0011g0195 a0001c0001t0028g0002 a0001c0001t0030g0187 a0001c0001t0030g0188 a0001c0001t0058g0184 a0001c0001t0061g0185	12	198	0.0606	-20	c.459 others(37): Show c.459-2914_459-2895delATATATATATATATTTTTTT	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87736879	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0198 a0001c0001t0011g0198	1	199	0.0050	-20	c.459 others(37): Show c.459-2910_459-2891delATATATATATTTTTTTTTTT	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
RUNX1T1_chr8_91949972_92108385	91959412	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02258.hp1 HG02451.hp1 HG03017.hp2 others(8): Show HG02258.hp1 HG02451.hp1 HG03017.hp2 HG03139.hp1 HG03239.hp1 HG03579.hp1 HG03688.hp1 HG03704.hp2 HG03942.hp2 HG04228.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0014 a0001c0001t0038 others(5): Show a0001c0001t0010 a0001c0001t0014 a0001c0001t0038 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0084	a0001c0001t0010g0025 a0001c0001t0010g0030 a0001c0001t0010g0110 others(8): Show a0001c0001t0010g0025 a0001c0001t0010g0030 a0001c0001t0010g0110 a0001c0001t0014g0067 a0001c0001t0014g0083 a0001c0001t0038g0073 a0001c0001t0056g0012 a0001c0001t0057g0087 a0001c0001t0058g0129 a0001c0001t0059g0091 a0001c0001t0084g0078	11	92	0.1196	-20	c.81 others(29): Show c.810_*829delCACACACACACACACACACA	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	12/12	810		chr8	TogoVar
RUNX1_chr21_34782801_35054302	35047547	ACACACAC others(13): Show ACACACACACACACACTCTCT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02615.hp1 HG02559.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0002 a0001c0001t0001 a0001c0005t0002	a0001c0001t0001g0102 a0001c0005t0002g0107 a0001c0001t0001g0102 a0001c0005t0002g0107	2	163	0.0123	-20	c.58+ others(35): Show c.58+1275_58+1294delAGAGAGTGTGTGTGTGTGTG	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUSC1_chr1_155315894_155336114	155332458	GTGTATAT others(13): Show GTGTATATATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01496.hp2 HG01069.hp2 HG01071.hp1 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0001 a0001c0001t0001g0007	3	122	0.0246	-20	c.18 others(31): Show c.1888_*1907delTGTATATATATATATATATA	RUSC1	ENSG00000160753.17	transcript	ENST00000368352.10	protein_coding		1345		chr1	TogoVar
RWDD4_chr4_183634635_183664185	183643059	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01243.hp2 HG01261.hp2 others(2): Show HG01106.hp1 HG01243.hp2 HG01261.hp2 HG01884.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0011 a0001c0001t0007 a0001c0001t0011	a0001c0001t0007g0274 a0001c0001t0007g0280 a0001c0001t0007g0371 others(2): Show a0001c0001t0007g0274 a0001c0001t0007g0280 a0001c0001t0007g0371 a0001c0001t0011g0165 a0001c0001t0011g0206	5	308	0.0162	-20	c.535 others(37): Show c.535-1611_535-1592delATTTATTTATTTATTTATTT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding	7/7			chr4	TogoVar
RXFP1_chr4_158516882_158658372	158626111	TATAGATA others(13): Show TATAGATAGATAGATAGATAG	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG04199.hp1 HG00733.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0090 a0001c0001t0001g0080 a0001c0001t0001g0090	2	56	0.0357	-20	c.756 others(35): Show c.756-662_756-643delAGATAGATAGATAGATAGAT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP2_chr13_31734526_31808389	31759375	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	34	0.0294	-20	c.241 others(37): Show c.241+1023_241+1042delAAGAAAGAAAGAAAGAAAGA	RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
RXRG_chr1_165395922_165450126	165427402	ATGTTTTG others(13): Show ATGTTTTGTTTTGTTTTGTTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG00741.hp2 others(65): Show HG00639.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01952.hp2 HG02004.hp1 HG02027.hp2 HG02056.hp2 HG02083.hp1 HG02155.hp1 HG02257.hp2 HG02293.hp1 HG02300.hp1 HG02630.hp1 HG02647.hp2 HG02738.hp2 HG02809.hp2 HG03017.hp1 HG03130.hp2 HG03491.hp1 HG03492.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18950.hp2 NA18956.hp2 NA18957.hp1 NA18961.hp1 NA18969.hp1 NA18971.hp1 NA18974.hp2 NA18980.hp1 NA18982.hp2 NA18990.hp1 NA18993.hp2 NA19007.hp1 NA19010.hp2 NA19011.hp2 NA19062.hp2 NA19064.hp2 NA19079.hp2 NA19083.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0005 others(1): Show a0001c0003 a0001c0004 a0001c0005 a0001c0012	a0001c0003t0001 a0001c0003t0005 a0001c0004t0001 others(7): Show a0001c0003t0001 a0001c0003t0005 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0005t0001 a0001c0005t0003 a0001c0005t0004 a0001c0005t0008 a0001c0012t0001	a0001c0003t0001g0275 a0001c0003t0005g0052 a0001c0003t0005g0276 others(46): Show a0001c0003t0001g0275 a0001c0003t0005g0052 a0001c0003t0005g0276 a0001c0003t0005g0277 a0001c0004t0001g0007 a0001c0004t0001g0012 a0001c0004t0001g0019 a0001c0004t0001g0020 a0001c0004t0001g0045 a0001c0004t0001g0047 a0001c0004t0001g0049 a0001c0004t0001g0050 a0001c0004t0001g0058 a0001c0004t0001g0232 a0001c0004t0001g0234 a0001c0004t0001g0235 a0001c0004t0001g0236 a0001c0004t0001g0237 a0001c0004t0001g0238 a0001c0004t0001g0239 a0001c0004t0001g0242 a0001c0004t0001g0243 a0001c0004t0001g0244 a0001c0004t0001g0245 a0001c0004t0001g0246 a0001c0004t0001g0247 a0001c0004t0001g0248 a0001c0004t0001g0249 a0001c0004t0001g0250 a0001c0004t0001g0255 a0001c0004t0001g0256 a0001c0004t0001g0257 a0001c0004t0001g0258 a0001c0004t0001g0259 a0001c0004t0001g0260 a0001c0004t0001g0261 a0001c0004t0001g0262 a0001c0004t0001g0263 a0001c0004t0001g0265 a0001c0004t0001g0288 a0001c0004t0001g0295 a0001c0004t0002g0044 a0001c0004t0002g0241 a0001c0004t0005g0229 a0001c0005t0001g0046 a0001c0005t0003g0240 a0001c0005t0004g0233 a0001c0005t0008g0048 a0001c0012t0001g0254	68	123	0.5528	-20	c.297 others(37): Show c.297+1297_297+1316delAAACAAAACAAAACAAAACA	RXRG	ENSG00000143171.13	transcript	ENST00000359842.10	protein_coding	2/9			chr1	TogoVar
RYK_chr3_134152133_134255859	134196582	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0323 a0002c0002t0001g0323	1	108	0.0093	-20	c.789 others(37): Show c.789-1420_789-1401delGTGTGTGTGTGTGTGTGTGT	RYK	ENSG00000163785.14	transcript	ENST00000623711.4	protein_coding	6/14			chr3	TogoVar
RYR1_chr19_38428691_38592564	38468048	TCATCCAT others(13): Show TCATCCATCCATCCATCCATC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02559.hp2 others(7): Show HG02109.hp2 HG02257.hp1 HG02559.hp2 HG02647.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03486.hp1 HG03579.hp2 NA19030.hp1	a0001 a0022 a0001 a0022	a0001c0011 a0001c0020 a0001c0056 others(4): Show a0001c0011 a0001c0020 a0001c0056 a0001c0058 a0001c0059 a0001c0108 a0022c0057	a0001c0011t0001 a0001c0020t0001 a0001c0056t0001 others(4): Show a0001c0011t0001 a0001c0020t0001 a0001c0056t0001 a0001c0058t0001 a0001c0059t0001 a0001c0108t0001 a0022c0057t0002	a0001c0011t0001g0003 a0001c0011t0001g0004 a0001c0011t0001g0017 others(7): Show a0001c0011t0001g0003 a0001c0011t0001g0004 a0001c0011t0001g0017 a0001c0020t0001g0191 a0001c0020t0001g0194 a0001c0056t0001g0036 a0001c0058t0001g0002 a0001c0059t0001g0193 a0001c0108t0001g0035 a0022c0057t0002g0207	10	206	0.0485	-20	c.338 others(37): Show c.3381+263_3381+282delTCCATCCATCCATCCATCCA	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	25/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38551025	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01975.hp2 HG02897.hp2 others(7): Show HG01433.hp1 HG01975.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp1 HG03139.hp1 HG03486.hp1 NA19240.hp1 NA20300.hp1	a0001 a0007 a0018 a0001 a0007 a0018	a0001c0011 a0001c0027 a0001c0055 others(4): Show a0001c0011 a0001c0027 a0001c0055 a0001c0058 a0001c0096 a0007c0010 a0018c0073	a0001c0011t0001 a0001c0027t0001 a0001c0055t0001 others(4): Show a0001c0011t0001 a0001c0027t0001 a0001c0055t0001 a0001c0058t0001 a0001c0096t0001 a0007c0010t0001 a0018c0073t0001	a0001c0011t0001g0003 a0001c0011t0001g0004 a0001c0027t0001g0030 others(7): Show a0001c0011t0001g0003 a0001c0011t0001g0004 a0001c0027t0001g0030 a0001c0055t0001g0034 a0001c0058t0001g0002 a0001c0096t0001g0099 a0007c0010t0001g0006 a0007c0010t0001g0007 a0007c0010t0001g0008 a0018c0073t0001g0137	10	55	0.1818	-20	c.122 others(41): Show c.12282+2625_12282+2644delTTTTTTTTTTTTTTTTTTTT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	89/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR2_chr1_237037184_237838988	237061276	CATCTATC others(13): Show CATCTATCTATCTATCTATCT	C C	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0065 a0001c0003t0002g0065	1	26	0.0385	-20	c.48+ others(37): Show c.48+18737_48+18756delTCTATCTATCTATCTATCTA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237117671	CCTTCTCT others(13): Show CCTTCTCTTCTCTTCTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01256.hp2 HG01261.hp2 others(6): Show HG01168.hp2 HG01256.hp2 HG01261.hp2 HG02451.hp1 HG02523.hp1 HG03471.hp2 HG03579.hp1 HG03669.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0017 a0001c0049 a0002c0035	a0001c0001t0001 a0001c0001t0035 a0001c0002t0009 others(6): Show a0001c0001t0001 a0001c0001t0035 a0001c0002t0009 a0001c0002t0010 a0001c0004t0011 a0001c0005t0014 a0001c0017t0034 a0001c0049t0010 a0002c0035t0018	a0001c0001t0001g0012 a0001c0001t0035g0026 a0001c0002t0009g0017 others(6): Show a0001c0001t0001g0012 a0001c0001t0035g0026 a0001c0002t0009g0017 a0001c0002t0010g0021 a0001c0004t0011g0047 a0001c0005t0014g0004 a0001c0017t0034g0032 a0001c0049t0010g0044 a0002c0035t0018g0010	9	17	0.5294	-20	c.48+ others(37): Show c.48+75170_48+75189delTCTCTTCTCTTCTCTTCTCT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237178416	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0029 a0001c0018t0029	a0001c0018t0029g0041 a0001c0018t0029g0041	1	13	0.0769	-20	c.49- others(37): Show c.49-92047_49-92028delGTGTGTGTGTGTGTGTGTGT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237208936	GTATATAT others(13): Show GTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0016 a0001c0007t0016	a0001c0007t0016g0042 a0001c0007t0016g0042	1	50	0.0200	-20	c.49- others(37): Show c.49-61531_49-61512delATATATATATATATATATAT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237347756	ACAAAAAA others(13): Show ACAAAAAACAAGCAAAACACC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp2 HG02572.hp2 others(4): Show HG02055.hp1 HG02257.hp2 HG02572.hp2 HG02922.hp2 HG03098.hp2 HG03516.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0019	a0001c0001t0001 a0001c0001t0038 a0001c0002t0003 others(4): Show a0001c0001t0001 a0001c0001t0038 a0001c0002t0003 a0001c0002t0028 a0001c0005t0031 a0001c0007t0016 a0001c0019t0019	a0001c0001t0001g0099 a0001c0001t0038g0001 a0001c0002t0003g0008 others(4): Show a0001c0001t0001g0099 a0001c0001t0038g0001 a0001c0002t0003g0008 a0001c0002t0028g0033 a0001c0005t0031g0028 a0001c0007t0016g0042 a0001c0019t0019g0035	7	100	0.0700	-20	c.274 others(37): Show c.274-8204_274-8185delAAACAAGCAAAACACCCAAA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	3/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237380359	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0005 a0001c0032t0005	a0001c0032t0005g0098 a0001c0032t0005g0098	1	17	0.0588	-20	c.576 others(37): Show c.576+2968_576+2987delTATATATATATATATATATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	8/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237474276	CACACACA others(13): Show CACACACACATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00609.hp1 others(32): Show HG00280.hp2 HG00408.hp1 HG00609.hp1 HG00609.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01099.hp2 HG01169.hp2 HG01175.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01928.hp1 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02922.hp2 HG03195.hp1 HG03471.hp2 HG03516.hp2 HG03704.hp1 HG03831.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp1 NA18946.hp1 NA18962.hp1 NA19066.hp1 NA19066.hp2 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0003 a0001c0004 a0001c0007 others(14): Show a0001c0003 a0001c0004 a0001c0007 a0001c0036 a0001c0037 a0001c0041 a0001c0042 a0001c0044 a0001c0047 a0001c0048 a0002c0009 a0002c0035 a0002c0038 a0002c0039 a0003c0013 a0003c0043 a0005c0046	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(28): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0011 a0001c0004t0027 a0001c0007t0001 a0001c0007t0003 a0001c0007t0016 a0001c0007t0021 a0001c0036t0003 a0001c0037t0012 a0001c0041t0006 a0001c0042t0017 a0001c0044t0002 a0001c0047t0002 a0001c0048t0001 a0002c0009t0002 a0002c0009t0004 a0002c0009t0008 a0002c0035t0018 a0002c0038t0040 a0002c0039t0033 a0003c0013t0001 a0003c0013t0003 a0003c0043t0002 a0005c0046t0012	a0001c0003t0001g0078 a0001c0003t0002g0065 a0001c0003t0002g0090 others(32): Show a0001c0003t0001g0078 a0001c0003t0002g0065 a0001c0003t0002g0090 a0001c0003t0003g0046 a0001c0003t0003g0084 a0001c0003t0004g0016 a0001c0003t0004g0060 a0001c0003t0005g0018 a0001c0004t0001g0058 a0001c0004t0002g0092 a0001c0004t0004g0045 a0001c0004t0011g0047 a0001c0004t0011g0093 a0001c0004t0027g0005 a0001c0007t0001g0020 a0001c0007t0003g0057 a0001c0007t0016g0042 a0001c0007t0021g0048 a0001c0036t0003g0038 a0001c0037t0012g0037 a0001c0041t0006g0027 a0001c0042t0017g0050 a0001c0044t0002g0014 a0001c0047t0002g0077 a0001c0048t0001g0007 a0002c0009t0002g0079 a0002c0009t0004g0067 a0002c0009t0008g0040 a0002c0035t0018g0010 a0002c0038t0040g0096 a0002c0039t0033g0030 a0003c0013t0001g0091 a0003c0013t0003g0086 a0003c0043t0002g0068 a0005c0046t0012g0080	35	100	0.3500	-20	c.170 others(39): Show c.1708+5099_1708+5118delTATATATATATACACACACA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	17/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237542058	CTTTATTT others(13): Show CTTTATTTATTTATTTATTTA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01081.hp1 HG01099.hp1 others(16): Show HG00609.hp1 HG01081.hp1 HG01099.hp1 HG01109.hp2 HG01175.hp1 HG01243.hp2 HG01256.hp2 HG01261.hp1 HG01496.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG03098.hp1 HG03098.hp2 HG03453.hp2 HG03471.hp1 NA18747.hp2 NA19066.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0011 a0001c0016 a0001c0022 a0001c0042 a0002c0009 a0002c0012 a0003c0006 a0003c0013 a0003c0021	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(16): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0038 a0001c0002t0001 a0001c0002t0028 a0001c0003t0003 a0001c0004t0004 a0001c0004t0011 a0001c0011t0041 a0001c0016t0030 a0001c0022t0009 a0001c0042t0017 a0002c0009t0004 a0002c0009t0008 a0002c0012t0020 a0003c0006t0001 a0003c0013t0003 a0003c0021t0001	a0001c0001t0001g0012 a0001c0001t0004g0036 a0001c0001t0007g0011 others(16): Show a0001c0001t0001g0012 a0001c0001t0004g0036 a0001c0001t0007g0011 a0001c0001t0038g0001 a0001c0002t0001g0070 a0001c0002t0028g0033 a0001c0003t0003g0084 a0001c0004t0004g0045 a0001c0004t0011g0047 a0001c0011t0041g0054 a0001c0016t0030g0024 a0001c0022t0009g0066 a0001c0042t0017g0050 a0002c0009t0004g0067 a0002c0009t0008g0040 a0002c0012t0020g0074 a0003c0006t0001g0083 a0003c0013t0003g0086 a0003c0021t0001g0019	19	31	0.6129	-20	c.290 others(39): Show c.2907-6341_2907-6322delATTTATTTATTTATTTATTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	25/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237565157	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0014 a0001c0005t0014	a0001c0005t0014g0004 a0001c0005t0014g0004	1	61	0.0164	-20	c.321 others(39): Show c.3215-1360_3215-1341delCTTTCTTTCTTTCTTTCTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	27/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237594885	GGTTTTTT others(13): Show GGTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0017 a0001c0042t0017	a0001c0042t0017g0050 a0001c0042t0017g0050	1	99	0.0101	-20	c.443 others(37): Show c.4437-612_4437-593delGTTTTTTTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	33/104			chr1	TogoVar
RYR2_chr1_237037184_237838988	237594886	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01928.hp2 HG02055.hp2 others(1): Show HG01099.hp2 HG01928.hp2 HG02055.hp2 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0003 a0001c0001t0015 a0001c0003t0001 others(1): Show a0001c0001t0003 a0001c0001t0015 a0001c0003t0001 a0001c0004t0027	a0001c0001t0003g0100 a0001c0001t0015g0069 a0001c0003t0001g0078 others(1): Show a0001c0001t0003g0100 a0001c0001t0015g0069 a0001c0003t0001g0078 a0001c0004t0027g0005	4	34	0.1176	-20	c.443 others(37): Show c.4437-586_4437-567delTTTTTTTTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	33/104		INFO_REALIGN_3_PRIME	chr1	TogoVar

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