Joint Open Genome and Omics Platform (JoGo)

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Snpeff genename

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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
RPS6KA6_chrX_84053350_84193199	84059114	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp1 HG02056.hp1 NA18953.hp1 others(2): Show HG00597.hp1 HG02056.hp1 NA18953.hp1 NA19000.hp1 NA19065.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0047 a0002c0002t0009 a0002c0002t0047	a0002c0002t0009g0047 a0002c0002t0009g0049 a0002c0002t0009g0065 others(2): Show a0002c0002t0009g0047 a0002c0002t0009g0049 a0002c0002t0009g0065 a0002c0002t0009g0067 a0002c0002t0047g0050	5	272	0.0184	-13	c.51 others(24): Show c.5150_*5162delAAAAAAAAAAAAA	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding	22/22	5150		chrX	TogoVar
RPS6KB1_chr17_59888121_59955574	59889381	GAGAGGCT others(6): Show GAGAGGCTGGGCAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00738.hp1 HG01109.hp1 others(18): Show HG00140.hp2 HG00738.hp1 HG01109.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG02004.hp1 HG02109.hp2 HG02148.hp2 HG02559.hp1 HG03540.hp1 HG03654.hp2 NA18747.hp1 NA18978.hp2 NA18993.hp2 NA19084.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0219 a0001c0001t0004g0229 a0001c0001t0004g0230 others(18): Show a0001c0001t0004g0219 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0004g0279 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0004g0283 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0286 a0001c0001t0004g0287 a0001c0001t0004g0288 a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0296	21	304	0.0691	-13	c.-38 others(24): Show c.-3803_-3791delAGAGGCTGGGCAC	RPS6KB1	ENSG00000108443.14	transcript	ENST00000225577.9	protein_coding		3739		chr17	TogoVar
RPS6KC1_chr1_213046241_213279774	213165438	TTTTGAGA others(6): Show TTTTGAGATGGAGA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	330	0.0030	-13	c.836 others(30): Show c.836-2419_836-2407delTTTGAGATGGAGA	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	6/14			chr1	TogoVar
RPS6KC1_chr1_213046241_213279774	213174670	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA20129.hp1 NA19030.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0095 a0001c0001t0009g0096 a0001c0001t0009g0095 a0001c0001t0009g0096	2	330	0.0061	-13	c.952 others(30): Show c.952-1720_952-1708delAAAAAAAAAAAAA	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS6KC1_chr1_213046241_213279774	213209695	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03139.hp2 HG03540.hp1 HG02970.hp2 HG03139.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113	3	330	0.0091	-13	c.104 others(34): Show c.1045-20788_1045-20776delAAAAAAAAAAAAA	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS6KC1_chr1_213046241_213279774	213244528	TTTGTGCT others(6): Show TTTGTGCTTGAACA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	330	0.0030	-13	c.291 others(32): Show c.2911+1873_2911+1885delGTGCTTGAACATT	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS6KC1_chr1_213046241_213279774	213257786	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18906.hp1 NA19030.hp1 others(1): Show HG02145.hp2 NA18906.hp1 NA19030.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 a0001c0001t0001 a0001c0001t0009 a0001c0001t0012	a0001c0001t0001g0243 a0001c0001t0009g0095 a0001c0001t0009g0096 others(1): Show a0001c0001t0001g0243 a0001c0001t0009g0095 a0001c0001t0009g0096 a0001c0001t0012g0315	4	330	0.0121	-13	c.291 others(32): Show c.2912-3749_2912-3737delTTTTTTTTTTTTT	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPSA2_chr19_23758004_23833868	23805146	CACACACA others(6): Show CACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(339): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0014 a0015	a0001c0001 a0001c0012 a0001c0015 others(12): Show a0001c0001 a0001c0012 a0001c0015 a0002c0002 a0003c0003 a0005c0005 a0006c0006 a0007c0007 a0009c0010 a0010c0018 a0011c0017 a0012c0016 a0013c0014 a0014c0013 a0015c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(140): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0031 a0001c0001t0035 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0055 a0001c0001t0057 a0001c0001t0065 a0001c0001t0069 a0001c0001t0074 a0001c0001t0090 a0001c0001t0093 a0001c0001t0094 a0001c0001t0099 a0001c0001t0103 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0118 a0001c0001t0119 a0001c0001t0123 a0001c0001t0124 a0001c0001t0125 a0001c0001t0126 a0001c0001t0127 a0001c0001t0128 a0001c0001t0129 a0001c0001t0130 a0001c0001t0131 a0001c0001t0133 a0001c0001t0134 a0001c0001t0135 a0001c0001t0136 a0001c0001t0138 a0001c0001t0142 a0001c0001t0143 a0001c0001t0145 a0001c0012t0001 a0001c0015t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 a0002c0002t0010 a0002c0002t0019 a0002c0002t0028 a0002c0002t0029 a0002c0002t0030 a0002c0002t0032 a0002c0002t0037 a0002c0002t0053 a0002c0002t0054 a0002c0002t0058 a0002c0002t0060 a0002c0002t0062 a0002c0002t0073 a0002c0002t0075 a0002c0002t0076 a0002c0002t0077 a0002c0002t0078 a0002c0002t0079 a0002c0002t0080 a0002c0002t0081 a0002c0002t0082 a0002c0002t0085 a0002c0002t0086 a0002c0002t0087 a0002c0002t0088 a0002c0002t0089 a0002c0002t0091 a0002c0002t0100 a0002c0002t0101 a0002c0002t0102 a0002c0002t0137 a0002c0002t0140 a0002c0002t0141 a0003c0003t0005 a0003c0003t0008 a0003c0003t0034 a0003c0003t0036 a0003c0003t0059 a0003c0003t0061 a0003c0003t0066 a0003c0003t0068 a0003c0003t0071 a0003c0003t0072 a0003c0003t0083 a0003c0003t0084 a0003c0003t0096 a0003c0003t0097 a0003c0003t0098 a0003c0003t0139 a0005c0005t0021 a0005c0005t0120 a0005c0005t0121 a0006c0006t0033 a0006c0006t0070 a0006c0006t0095 a0007c0007t0033 a0007c0007t0064 a0007c0007t0067 a0009c0010t0027 a0010c0018t0003 a0011c0017t0007 a0012c0016t0092 a0013c0014t0056 a0014c0013t0016 a0015c0011t0132	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0247 others(336): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0247 a0001c0001t0001g0258 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0288 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0310 a0001c0001t0001g0318 a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0342 a0001c0001t0001g0357 a0001c0001t0004g0001 a0001c0001t0004g0020 a0001c0001t0004g0022 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0032 a0001c0001t0004g0034 a0001c0001t0004g0036 a0001c0001t0004g0040 a0001c0001t0004g0048 a0001c0001t0004g0051 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0056 a0001c0001t0004g0058 a0001c0001t0004g0060 a0001c0001t0004g0063 a0001c0001t0006g0279 a0001c0001t0006g0287 a0001c0001t0006g0308 a0001c0001t0006g0311 a0001c0001t0006g0314 a0001c0001t0006g0320 a0001c0001t0006g0336 a0001c0001t0006g0340 a0001c0001t0007g0001 a0001c0001t0007g0015 a0001c0001t0007g0016 a0001c0001t0007g0033 a0001c0001t0007g0035 a0001c0001t0007g0037 a0001c0001t0007g0039 a0001c0001t0007g0066 a0001c0001t0008g0100 a0001c0001t0008g0106 a0001c0001t0008g0107 a0001c0001t0008g0109 a0001c0001t0008g0111 a0001c0001t0008g0177 a0001c0001t0008g0233 a0001c0001t0011g0098 a0001c0001t0011g0103 a0001c0001t0011g0104 a0001c0001t0011g0110 a0001c0001t0011g0178 a0001c0001t0011g0219 a0001c0001t0012g0206 a0001c0001t0012g0208 a0001c0001t0012g0211 a0001c0001t0012g0227 a0001c0001t0012g0229 a0001c0001t0012g0236 a0001c0001t0014g0259 a0001c0001t0014g0264 a0001c0001t0014g0270 a0001c0001t0014g0335 a0001c0001t0014g0344 a0001c0001t0015g0025 a0001c0001t0015g0030 a0001c0001t0015g0046 a0001c0001t0015g0047 a0001c0001t0015g0050 a0001c0001t0016g0285 a0001c0001t0016g0325 a0001c0001t0018g0278 a0001c0001t0018g0284 a0001c0001t0018g0303 a0001c0001t0018g0323 a0001c0001t0020g0262 a0001c0001t0020g0263 a0001c0001t0020g0307 a0001c0001t0022g0004 a0001c0001t0022g0031 a0001c0001t0022g0042 a0001c0001t0023g0349 a0001c0001t0023g0350 a0001c0001t0023g0352 a0001c0001t0025g0346 a0001c0001t0025g0351 a0001c0001t0026g0045 a0001c0001t0026g0055 a0001c0001t0031g0102 a0001c0001t0031g0113 a0001c0001t0035g0093 a0001c0001t0035g0112 a0001c0001t0038g0261 a0001c0001t0038g0343 a0001c0001t0039g0301 a0001c0001t0039g0341 a0001c0001t0040g0257 a0001c0001t0040g0309 a0001c0001t0041g0243 a0001c0001t0041g0321 a0001c0001t0042g0024 a0001c0001t0042g0059 a0001c0001t0043g0240 a0001c0001t0043g0241 a0001c0001t0044g0273 a0001c0001t0044g0283 a0001c0001t0045g0043 a0001c0001t0045g0062 a0001c0001t0046g0168 a0001c0001t0046g0207 a0001c0001t0047g0242 a0001c0001t0047g0315 a0001c0001t0049g0312 a0001c0001t0050g0245 a0001c0001t0051g0044 a0001c0001t0055g0097 a0001c0001t0057g0296 a0001c0001t0065g0099 a0001c0001t0069g0108 a0001c0001t0074g0105 a0001c0001t0090g0101 a0001c0001t0093g0354 a0001c0001t0094g0355 a0001c0001t0099g0334 a0001c0001t0103g0347 a0001c0001t0105g0313 a0001c0001t0106g0292 a0001c0001t0107g0327 a0001c0001t0108g0319 a0001c0001t0109g0277 a0001c0001t0110g0265 a0001c0001t0111g0299 a0001c0001t0112g0356 a0001c0001t0113g0329 a0001c0001t0114g0275 a0001c0001t0115g0280 a0001c0001t0116g0304 a0001c0001t0117g0353 a0001c0001t0118g0345 a0001c0001t0119g0269 a0001c0001t0123g0068 a0001c0001t0124g0004 a0001c0001t0125g0067 a0001c0001t0126g0041 a0001c0001t0127g0018 a0001c0001t0128g0267 a0001c0001t0129g0272 a0001c0001t0130g0049 a0001c0001t0131g0061 a0001c0001t0133g0226 a0001c0001t0134g0217 a0001c0001t0135g0218 a0001c0001t0136g0209 a0001c0001t0138g0116 a0001c0001t0142g0291 a0001c0001t0143g0001 a0001c0001t0145g0210 a0001c0012t0001g0290 a0001c0015t0001g0289 a0002c0002t0002g0065 a0002c0002t0002g0078 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0128 a0002c0002t0002g0154 a0002c0002t0002g0157 a0002c0002t0002g0174 a0002c0002t0002g0181 a0002c0002t0002g0185 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0197 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0234 a0002c0002t0002g0239 a0002c0002t0002g0248 a0002c0002t0002g0252 a0002c0002t0002g0255 a0002c0002t0002g0297 a0002c0002t0002g0331 a0002c0002t0002g0332 a0002c0002t0003g0017 a0002c0002t0003g0092 a0002c0002t0003g0115 a0002c0002t0003g0117 a0002c0002t0003g0126 a0002c0002t0003g0142 a0002c0002t0003g0145 a0002c0002t0003g0146 a0002c0002t0003g0149 a0002c0002t0003g0152 a0002c0002t0003g0153 a0002c0002t0003g0156 a0002c0002t0003g0161 a0002c0002t0003g0169 a0002c0002t0003g0170 a0002c0002t0003g0173 a0002c0002t0003g0182 a0002c0002t0003g0190 a0002c0002t0003g0195 a0002c0002t0003g0205 a0002c0002t0003g0216 a0002c0002t0003g0223 a0002c0002t0003g0225 a0002c0002t0003g0244 a0002c0002t0003g0249 a0002c0002t0003g0251 a0002c0002t0003g0254 a0002c0002t0003g0333 a0002c0002t0009g0118 a0002c0002t0009g0141 a0002c0002t0009g0147 a0002c0002t0009g0194 a0002c0002t0009g0198 a0002c0002t0009g0201 a0002c0002t0009g0203 a0002c0002t0010g0096 a0002c0002t0010g0130 a0002c0002t0010g0133 a0002c0002t0010g0148 a0002c0002t0010g0155 a0002c0002t0010g0204 a0002c0002t0010g0235 a0002c0002t0019g0140 a0002c0002t0019g0167 a0002c0002t0019g0253 a0002c0002t0028g0069 a0002c0002t0028g0070 a0002c0002t0029g0072 a0002c0002t0029g0073 a0002c0002t0030g0164 a0002c0002t0030g0166 a0002c0002t0032g0187 a0002c0002t0032g0256 a0002c0002t0037g0143 a0002c0002t0037g0144 a0002c0002t0053g0202 a0002c0002t0054g0228 a0002c0002t0058g0165 a0002c0002t0060g0123 a0002c0002t0062g0191 a0002c0002t0073g0159 a0002c0002t0075g0230 a0002c0002t0076g0158 a0002c0002t0077g0180 a0002c0002t0078g0250 a0002c0002t0079g0231 a0002c0002t0080g0238 a0002c0002t0081g0162 a0002c0002t0082g0172 a0002c0002t0085g0188 a0002c0002t0086g0132 a0002c0002t0087g0232 a0002c0002t0088g0176 a0002c0002t0089g0129 a0002c0002t0091g0160 a0002c0002t0100g0119 a0002c0002t0101g0186 a0002c0002t0102g0114 a0002c0002t0137g0071 a0002c0002t0140g0150 a0002c0002t0141g0127 a0003c0003t0005g0002 a0003c0003t0005g0013 a0003c0003t0005g0014 a0003c0003t0005g0135 a0003c0003t0005g0136 a0003c0003t0005g0151 a0003c0003t0005g0163 a0003c0003t0005g0189 a0003c0003t0005g0199 a0003c0003t0008g0179 a0003c0003t0034g0134 a0003c0003t0034g0137 a0003c0003t0036g0077 a0003c0003t0036g0080 a0003c0003t0059g0196 a0003c0003t0061g0138 a0003c0003t0066g0200 a0003c0003t0068g0002 a0003c0003t0071g0075 a0003c0003t0072g0074 a0003c0003t0083g0079 a0003c0003t0084g0076 a0003c0003t0096g0220 a0003c0003t0097g0184 a0003c0003t0098g0183 a0003c0003t0139g0171 a0005c0005t0021g0081 a0005c0005t0021g0082 a0005c0005t0021g0083 a0005c0005t0120g0084 a0005c0005t0121g0085 a0006c0006t0033g0215 a0006c0006t0070g0214 a0006c0006t0095g0213 a0007c0007t0033g0139 a0007c0007t0064g0224 a0007c0007t0067g0212 a0009c0010t0027g0088 a0009c0010t0027g0089 a0010c0018t0003g0131 a0011c0017t0007g0021 a0012c0016t0092g0175 a0013c0014t0056g0358 a0014c0013t0016g0260 a0015c0011t0132g0052	342	366	0.9344	-13	c.-30 others(32): Show c.-302-2679_-302-2667delACACACACACACA	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding	1/3			chr19	TogoVar
RPTOR_chr17_80539838_80971368	80588425	TGTTGGGA others(6): Show TGTTGGGATTACAG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02109.hp2 others(15): Show HG01884.hp2 HG02109.hp1 HG02109.hp2 HG02258.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02886.hp1 HG02897.hp1 HG02976.hp1 HG03041.hp2 HG03195.hp2 HG03209.hp2 HG03540.hp1 HG03540.hp2 NA18522.hp1 NA19030.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0005 a0001c0006 others(13): Show a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0012 a0001c0016 a0001c0021 a0001c0056 a0001c0065 a0001c0067 a0001c0070 a0001c0077 a0002c0062 a0002c0063	a0001c0004t0035 a0001c0005t0026 a0001c0005t0067 others(14): Show a0001c0004t0035 a0001c0005t0026 a0001c0005t0067 a0001c0006t0076 a0001c0007t0030 a0001c0008t0036 a0001c0009t0012 a0001c0012t0018 a0001c0016t0029 a0001c0021t0065 a0001c0056t0001 a0001c0065t0007 a0001c0067t0068 a0001c0070t0020 a0001c0077t0086 a0002c0062t0018 a0002c0063t0020	a0001c0004t0035g0004 a0001c0005t0026g0109 a0001c0005t0067g0111 others(15): Show a0001c0004t0035g0004 a0001c0005t0026g0109 a0001c0005t0067g0111 a0001c0006t0076g0192 a0001c0007t0030g0018 a0001c0007t0030g0020 a0001c0008t0036g0002 a0001c0009t0012g0103 a0001c0012t0018g0194 a0001c0016t0029g0193 a0001c0021t0065g0112 a0001c0056t0001g0107 a0001c0065t0007g0101 a0001c0067t0068g0110 a0001c0070t0020g0003 a0001c0077t0086g0195 a0002c0062t0018g0191 a0002c0063t0020g0001	18	196	0.0918	-13	c.163 others(32): Show c.163-37264_163-37252delTTGGGATTACAGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	1/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80634686	ACTGTGTG others(6): Show ACTGTGTGCGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03209.hp2 NA20300.hp2 HG02970.hp2 HG03209.hp2 NA20300.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0008 a0002c0062 a0005c0092 a0001c0008 a0002c0062 a0005c0092	a0001c0008t0027 a0002c0062t0018 a0005c0092t0012 a0001c0008t0027 a0002c0062t0018 a0005c0092t0012	a0001c0008t0027g0143 a0002c0062t0018g0191 a0005c0092t0012g0163 a0001c0008t0027g0143 a0002c0062t0018g0191 a0005c0092t0012g0163	3	196	0.0153	-13	c.265 others(30): Show c.265+8895_265+8907delTGTGTGCGTGTGC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80634706	GTGTGTGT others(6): Show GTGTGTGTGCGTAC	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0065 a0001c0021t0065	a0001c0021t0065g0112 a0001c0021t0065g0112	1	196	0.0051	-13	c.265 others(30): Show c.265+8922_265+8934delCGTACTGTGTGTG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80634860	GTGTGTGT others(6): Show GTGTGTGTGCATAC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0052 a0001c0025t0052	a0001c0025t0052g0181 a0001c0025t0052g0181	1	196	0.0051	-13	c.266 others(30): Show c.266-8861_266-8849delTGCATACTGTGTG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80674787	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(35): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00621.hp2 HG00639.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01175.hp1 HG01258.hp2 HG01496.hp1 HG01496.hp2 HG01934.hp1 HG01978.hp2 HG02129.hp1 HG02165.hp2 HG02273.hp1 HG02280.hp2 HG02602.hp1 HG03017.hp2 HG03239.hp2 HG03490.hp2 HG03654.hp1 HG03688.hp2 HG06807.hp1 NA18747.hp2 NA18944.hp2 NA19011.hp1 NA19082.hp2 NA19088.hp2 NA20300.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(21): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0010 a0001c0014 a0001c0017 a0001c0018 a0001c0019 a0001c0023 a0001c0024 a0001c0026 a0001c0031 a0001c0032 a0001c0033 a0001c0035 a0001c0037 a0001c0054 a0001c0073 a0001c0081 a0001c0085 a0004c0082	a0001c0001t0002 a0001c0001t0005 a0001c0001t0019 others(29): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0019 a0001c0002t0002 a0001c0002t0010 a0001c0003t0013 a0001c0004t0033 a0001c0006t0013 a0001c0007t0090 a0001c0010t0009 a0001c0010t0094 a0001c0014t0002 a0001c0014t0034 a0001c0017t0005 a0001c0018t0009 a0001c0019t0005 a0001c0023t0002 a0001c0023t0009 a0001c0024t0002 a0001c0026t0010 a0001c0031t0011 a0001c0032t0033 a0001c0032t0097 a0001c0033t0098 a0001c0035t0010 a0001c0035t0095 a0001c0037t0004 a0001c0054t0034 a0001c0073t0002 a0001c0081t0002 a0001c0085t0003 a0004c0082t0010	a0001c0001t0002g0038 a0001c0001t0005g0044 a0001c0001t0005g0046 others(35): Show a0001c0001t0002g0038 a0001c0001t0005g0044 a0001c0001t0005g0046 a0001c0001t0019g0050 a0001c0001t0019g0057 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0010g0064 a0001c0003t0013g0043 a0001c0004t0033g0023 a0001c0006t0013g0068 a0001c0007t0090g0025 a0001c0010t0009g0058 a0001c0010t0094g0054 a0001c0014t0002g0032 a0001c0014t0002g0033 a0001c0014t0002g0055 a0001c0014t0034g0072 a0001c0017t0005g0031 a0001c0017t0005g0067 a0001c0018t0009g0066 a0001c0019t0005g0037 a0001c0023t0002g0049 a0001c0023t0009g0071 a0001c0024t0002g0048 a0001c0026t0010g0045 a0001c0031t0011g0073 a0001c0032t0033g0039 a0001c0032t0097g0053 a0001c0033t0098g0026 a0001c0035t0010g0063 a0001c0035t0095g0041 a0001c0037t0004g0145 a0001c0054t0034g0056 a0001c0073t0002g0070 a0001c0081t0002g0022 a0001c0085t0003g0162 a0004c0082t0010g0052	38	196	0.1939	-13	c.348 others(32): Show c.348+31003_348+31015delAAAAAAAAAAAAA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80952855	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(28): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00423.hp1 HG00544.hp2 HG00735.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01175.hp1 HG01496.hp2 HG01516.hp1 HG02015.hp2 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02602.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG03239.hp2 HG03669.hp1 HG03834.hp1 HG04204.hp2 NA18522.hp2 NA18944.hp2 NA19011.hp2 NA19068.hp1 NA19082.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0010 others(17): Show a0001c0004 a0001c0005 a0001c0010 a0001c0011 a0001c0019 a0001c0022 a0001c0026 a0001c0029 a0001c0030 a0001c0035 a0001c0055 a0001c0060 a0001c0071 a0001c0073 a0001c0078 a0001c0084 a0001c0091 a0001c0093 a0001c0094 a0001c0096	a0001c0004t0035 a0001c0005t0075 a0001c0010t0009 others(26): Show a0001c0004t0035 a0001c0005t0075 a0001c0010t0009 a0001c0010t0032 a0001c0010t0056 a0001c0010t0071 a0001c0010t0094 a0001c0011t0062 a0001c0019t0003 a0001c0019t0005 a0001c0019t0042 a0001c0022t0001 a0001c0022t0022 a0001c0026t0010 a0001c0026t0043 a0001c0029t0085 a0001c0030t0003 a0001c0035t0010 a0001c0035t0095 a0001c0055t0049 a0001c0060t0001 a0001c0071t0088 a0001c0073t0002 a0001c0078t0041 a0001c0084t0059 a0001c0091t0016 a0001c0093t0070 a0001c0094t0057 a0001c0096t0072	a0001c0004t0035g0004 a0001c0005t0075g0009 a0001c0010t0009g0058 others(28): Show a0001c0004t0035g0004 a0001c0005t0075g0009 a0001c0010t0009g0058 a0001c0010t0032g0059 a0001c0010t0056g0183 a0001c0010t0071g0184 a0001c0010t0094g0054 a0001c0011t0062g0114 a0001c0019t0003g0135 a0001c0019t0005g0037 a0001c0019t0042g0089 a0001c0022t0001g0132 a0001c0022t0001g0170 a0001c0022t0022g0095 a0001c0026t0010g0045 a0001c0026t0043g0096 a0001c0029t0085g0012 a0001c0030t0003g0115 a0001c0030t0003g0117 a0001c0035t0010g0063 a0001c0035t0095g0041 a0001c0055t0049g0083 a0001c0060t0001g0130 a0001c0071t0088g0035 a0001c0073t0002g0070 a0001c0078t0041g0100 a0001c0084t0059g0165 a0001c0091t0016g0166 a0001c0093t0070g0155 a0001c0094t0057g0136 a0001c0096t0072g0171	31	196	0.1582	-13	c.337 others(32): Show c.3370+3323_3370+3335delTTTTTTTTTTTTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	28/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPUSD2_chr15_40564299_40579949	40568286	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	392	0.0026	-13	c.-10 others(24): Show c.-1051_-1039delAAAAAAAAAAAAA	RPUSD2	ENSG00000166133.18	transcript	ENST00000315616.12	protein_coding		1012		chr15	TogoVar
RPUSD4_chr11_126197096_126216650	126214501	TTGTTTTT others(6): Show TTGTTTTTTTTTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(147): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00733.hp1 HG00738.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02273.hp2 HG02300.hp2 HG02523.hp2 HG02615.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG03017.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp2 NA18941.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18960.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18973.hp2 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19059.hp1 NA19059.hp2 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19076.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0002 a0001c0004 a0001c0009 others(4): Show a0001c0002 a0001c0004 a0001c0009 a0001c0011 a0002c0001 a0005c0012 a0007c0008	a0001c0002t0001 a0001c0002t0004 a0001c0002t0008 others(8): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0008 a0001c0004t0001 a0001c0009t0001 a0001c0011t0001 a0002c0001t0001 a0002c0001t0003 a0002c0001t0011 a0005c0012t0001 a0007c0008t0013	a0001c0002t0001g0001 a0001c0002t0001g0013 a0001c0002t0001g0025 others(40): Show a0001c0002t0001g0001 a0001c0002t0001g0013 a0001c0002t0001g0025 a0001c0002t0001g0036 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0087 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0101 a0001c0002t0001g0103 a0001c0002t0004g0011 a0001c0002t0008g0088 a0001c0002t0008g0098 a0001c0004t0001g0019 a0001c0009t0001g0089 a0001c0011t0001g0105 a0002c0001t0001g0008 a0002c0001t0001g0010 a0002c0001t0001g0018 a0002c0001t0001g0028 a0002c0001t0001g0032 a0002c0001t0001g0033 a0002c0001t0001g0056 a0002c0001t0001g0059 a0002c0001t0001g0062 a0002c0001t0001g0063 a0002c0001t0001g0064 a0002c0001t0001g0065 a0002c0001t0001g0068 a0002c0001t0001g0069 a0002c0001t0001g0070 a0002c0001t0001g0072 a0002c0001t0003g0004 a0002c0001t0003g0021 a0002c0001t0011g0071 a0005c0012t0001g0106 a0007c0008t0013g0073	150	416	0.3606	-13	c.-28 others(24): Show c.-2876_-2864delCAAAAAAAAAACA	RPUSD4	ENSG00000165526.9	transcript	ENST00000298317.9	protein_coding		2852		chr11	TogoVar
RPUSD4_chr11_126197096_126216650	126214503	GTTTTTTT others(6): Show GTTTTTTTTTTGTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02280.hp2 HG02622.hp2 others(7): Show HG02145.hp1 HG02280.hp2 HG02622.hp2 HG02886.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03471.hp2 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0005 a0001c0003t0001 a0001c0003t0005	a0001c0003t0001g0038 a0001c0003t0001g0041 a0001c0003t0001g0042 others(1): Show a0001c0003t0001g0038 a0001c0003t0001g0041 a0001c0003t0001g0042 a0001c0003t0005g0020	10	416	0.0240	-13	c.-28 others(24): Show c.-2878_-2866delAACAAAAAAAAAA	RPUSD4	ENSG00000165526.9	transcript	ENST00000298317.9	protein_coding		2854		chr11	TogoVar
RRAGA_chr9_19044427_19056025	19045316	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01074.hp1 HG01081.hp1 others(77): Show HG00099.hp2 HG01074.hp1 HG01081.hp1 HG01192.hp2 HG01243.hp1 HG01258.hp1 HG01433.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02109.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03942.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18939.hp2 NA18989.hp1 NA18990.hp1 NA18993.hp1 NA19009.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19062.hp1 NA19080.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(1): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000	80	446	0.1794	-13	c.-43 others(24): Show c.-4343_-4331delAAAAAAAAAAAAA	RRAGA	ENSG00000155876.6	transcript	ENST00000380527.3	protein_coding		4110		chr9	TogoVar
RRAGC_chr1_38833198_38864772	38855318	TAAGACTC others(6): Show TAAGACTCAAGCTA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02922.hp1 HG03471.hp2 others(2): Show HG02257.hp1 HG02922.hp1 HG03471.hp2 HG03486.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0133 a0001c0001t0001g0134 others(1): Show a0001c0001t0001g0042 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135	5	418	0.0120	-13	c.641 others(28): Show c.641+377_641+389delTAGCTTGAGTCTT	RRAGC	ENSG00000116954.8	transcript	ENST00000373001.4	protein_coding	3/6			chr1	TogoVar
RRBP1_chr20_17608679_17687242	17616321	CCTCTTGG others(6): Show CCTCTTGGTGAGGA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0024 a0024	a0024c0027 a0024c0027	a0024c0027t0001 a0024c0027t0001	a0024c0027t0001g0010 a0024c0027t0001g0010	2	350	0.0057	-13	c.386 others(30): Show c.3868-325_3868-313delTCCTCACCAAGAG	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	21/24			chr20	TogoVar
RREB1_chr6_7102961_7256980	7117388	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01978.hp2 HG02109.hp1 others(5): Show HG00140.hp2 HG01978.hp2 HG02109.hp1 HG02896.hp1 HG03927.hp1 NA18965.hp1 NA19012.hp1 NA19066.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0007 a0008 a0018 a0025	a0001c0003 a0002c0001 a0003c0004 others(4): Show a0001c0003 a0002c0001 a0003c0004 a0007c0006 a0008c0010 a0018c0058 a0025c0062	a0001c0003t0015 a0002c0001t0001 a0003c0004t0003 others(5): Show a0001c0003t0015 a0002c0001t0001 a0003c0004t0003 a0003c0004t0008 a0007c0006t0004 a0008c0010t0001 a0018c0058t0010 a0025c0062t0014	a0001c0003t0015g0044 a0002c0001t0001g0043 a0003c0004t0003g0229 others(5): Show a0001c0003t0015g0044 a0002c0001t0001g0043 a0003c0004t0003g0229 a0003c0004t0008g0128 a0007c0006t0004g0086 a0008c0010t0001g0288 a0018c0058t0010g0196 a0025c0062t0014g0221	8	292	0.0274	-13	c.-28 others(32): Show c.-285+9353_-285+9365delTTTTTTTTTTTTT	RREB1	ENSG00000124782.21	transcript	ENST00000379938.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
RRM2_chr2_10117739_10136414	10126186	AAAAAAAG others(6): Show AAAAAAAGCTGCCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00642.hp1 others(22): Show HG00099.hp2 HG00280.hp1 HG00642.hp1 HG00733.hp2 HG01070.hp2 HG01071.hp1 HG01169.hp2 HG01346.hp2 HG01361.hp1 HG01981.hp1 HG02451.hp2 HG02897.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03471.hp1 HG03540.hp1 HG03579.hp1 HG03927.hp1 HG06807.hp2 NA18612.hp2 NA19240.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0019	a0001c0001t0001g0006 a0001c0001t0001g0041 a0001c0001t0003g0032 others(7): Show a0001c0001t0001g0006 a0001c0001t0001g0041 a0001c0001t0003g0032 a0001c0001t0006g0006 a0001c0001t0006g0022 a0001c0001t0006g0038 a0001c0001t0007g0006 a0001c0001t0010g0018 a0001c0001t0013g0006 a0001c0001t0019g0006	25	358	0.0698	-13	c.570 others(28): Show c.570-686_570-674delAAAAGCTGCCCAA	RRM2	ENSG00000171848.16	transcript	ENST00000304567.10	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
RRP12_chr10_97351701_97406340	97365403	AGCTGGGA others(6): Show AGCTGGGACTACAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02895.hp2 HG02970.hp2 HG02109.hp1 HG02895.hp2 HG02970.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0244 a0001c0008t0001g0245 a0001c0008t0001g0261 a0001c0008t0001g0244 a0001c0008t0001g0245 a0001c0008t0001g0261	3	400	0.0075	-13	c.351 others(30): Show c.3517+692_3517+704delCTGTAGTCCCAGC	RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding	29/33			chr10	TogoVar
RRP12_chr10_97351701_97406340	97398026	TATATATA others(6): Show TATATATATACGTA	T T	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0273 a0003c0002t0001g0273	1	400	0.0025	-13	c.370 others(30): Show c.370-1738_370-1726delTACGTATATATAT	RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding	2/33			chr10	TogoVar
RRP1B_chr21_43654560_43701079	43673634	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01884.hp2 HG02109.hp2 others(26): Show HG01496.hp2 HG01884.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03486.hp1 HG03540.hp2 HG06807.hp2 NA18522.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0010	a0001c0005 a0003c0004 a0007c0019 others(1): Show a0001c0005 a0003c0004 a0007c0019 a0010c0018	a0001c0005t0010 a0001c0005t0024 a0003c0004t0004 others(4): Show a0001c0005t0010 a0001c0005t0024 a0003c0004t0004 a0003c0004t0006 a0003c0004t0023 a0007c0019t0006 a0010c0018t0006	a0001c0005t0010g0105 a0001c0005t0010g0106 a0001c0005t0010g0107 others(16): Show a0001c0005t0010g0105 a0001c0005t0010g0106 a0001c0005t0010g0107 a0001c0005t0010g0196 a0001c0005t0024g0104 a0003c0004t0004g0010 a0003c0004t0004g0011 a0003c0004t0004g0014 a0003c0004t0004g0045 a0003c0004t0004g0046 a0003c0004t0004g0047 a0003c0004t0004g0048 a0003c0004t0004g0097 a0003c0004t0006g0009 a0003c0004t0006g0049 a0003c0004t0006g0050 a0003c0004t0023g0191 a0007c0019t0006g0009 a0010c0018t0006g0051	29	372	0.0780	-13	c.272 others(28): Show c.272-228_272-216delAAAAAAAAAAAAA	RRP1B	ENSG00000160208.13	transcript	ENST00000340648.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr21	TogoVar
RRP1_chr21_43784577_43810293	43802757	CCTTCTTC others(6): Show CCTTCTTCCCTCCA	C C	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0094 a0002c0001t0001g0094	1	394	0.0025	-13	c.112 others(30): Show c.1123+389_1123+401delTCCCTCCACTTCT	RRP1	ENSG00000160214.13	transcript	ENST00000497547.2	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr21	TogoVar
RRP1_chr21_43784577_43810293	43809180	TAGCAACC others(6): Show TAGCAACCCACGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0016	a0001c0004t0016g0108 a0001c0004t0016g0108	1	394	0.0025	-13	c.54 others(24): Show c.5407_*5419delAGCAACCCACGCC	RRP1	ENSG00000160214.13	transcript	ENST00000497547.2	protein_coding		3888		chr21	TogoVar
RRP7A_chr22_42503344_42524796	42505836	TTGGGAAG others(6): Show TTGGGAAGCTGAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG00741.hp1 others(19): Show HG00639.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01175.hp1 HG01346.hp1 HG01358.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG01952.hp1 HG01978.hp1 HG02004.hp1 HG02109.hp1 HG02293.hp2 HG02630.hp2 HG02886.hp2 HG03471.hp2 HG03654.hp2 HG06807.hp2 NA20805.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0011 a0003c0004t0044 a0003c0004t0045 others(8): Show a0003c0004t0011 a0003c0004t0044 a0003c0004t0045 a0003c0004t0046 a0003c0004t0047 a0003c0004t0048 a0003c0004t0127 a0003c0004t0128 a0003c0004t0129 a0003c0004t0130 a0003c0004t0131	a0003c0004t0011g0027 a0003c0004t0011g0047 a0003c0004t0011g0211 others(13): Show a0003c0004t0011g0027 a0003c0004t0011g0047 a0003c0004t0011g0211 a0003c0004t0011g0213 a0003c0004t0044g0046 a0003c0004t0045g0210 a0003c0004t0045g0223 a0003c0004t0046g0222 a0003c0004t0046g0225 a0003c0004t0047g0050 a0003c0004t0048g0049 a0003c0004t0127g0228 a0003c0004t0128g0209 a0003c0004t0129g0224 a0003c0004t0130g0226 a0003c0004t0131g0212	22	388	0.0567	-13	c.70 others(24): Show c.7061_*7073delCCTCAGCTTCCCA	RRP7A	ENSG00000189306.11	transcript	ENST00000323013.7	protein_coding		2507		chr22	TogoVar
RRP7A_chr22_42503344_42524796	42507699	ACAGCTAG others(6): Show ACAGCTAGTTATTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02155.hp2 NA18953.hp1 others(1): Show HG02015.hp1 HG02155.hp2 NA18953.hp1 NA19067.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0005 a0002c0001t0030 others(1): Show a0002c0001t0004 a0002c0001t0005 a0002c0001t0030 a0002c0001t0074	a0002c0001t0004g0003 a0002c0001t0005g0010 a0002c0001t0030g0090 others(1): Show a0002c0001t0004g0003 a0002c0001t0005g0010 a0002c0001t0030g0090 a0002c0001t0074g0094	4	388	0.0103	-13	c.51 others(24): Show c.5198_*5210delGAATAACTAGCTG	RRP7A	ENSG00000189306.11	transcript	ENST00000323013.7	protein_coding		644		chr22	TogoVar
RRP7A_chr22_42503344_42524796	42517342	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0073 a0002c0001t0073	a0002c0001t0073g0063 a0002c0001t0073g0063	1	388	0.0026	-13	c.216 others(28): Show c.216+650_216+662delTTTTTTTTTTTTT	RRP7A	ENSG00000189306.11	transcript	ENST00000323013.7	protein_coding	2/6			chr22	TogoVar
RSBN1L_chr7_77691459_77788022	77703477	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0237 a0001c0002t0001g0237	1	336	0.0030	-13	c.586 others(30): Show c.586+6440_586+6452delTTTTTTTTTTTTT	RSBN1L	ENSG00000187257.16	transcript	ENST00000334955.13	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
RSF1_chr11_77655009_77825722	77658011	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0229 a0002c0003t0002g0229	1	352	0.0028	-13	c.88 others(24): Show c.8893_*8905delTTTTTTTTTTTTT	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding		1997		chr11	TogoVar
RSF1_chr11_77655009_77825722	77798581	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02630.hp2 HG02895.hp2 others(1): Show HG01074.hp1 HG02630.hp2 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0010 a0001c0002t0033 a0001c0001t0002 a0001c0002t0010 a0001c0002t0033	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0002t0010g0013 others(1): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0002t0010g0013 a0001c0002t0033g0012	4	352	0.0114	-13	c.187 others(32): Show c.187+21934_187+21946delTTTTTTTTTTTTT	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	1/15			chr11	TogoVar
RSKR_chr17_28602963_28619185	28615034	TCCTGTAC others(6): Show TCCTGTACTGCAGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0025 a0001c0001t0005g0025	1	362	0.0028	-13	c.-88 others(22): Show c.-886_-874delGCTGCAGTACAGG	RSKR	ENSG00000167524.17	transcript	ENST00000301037.11	protein_coding		850		chr17	TogoVar
RSL1D1_chr16_11828850_11856542	11842333	AAAAAAAA others(6): Show AAAAAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02630.hp1 HG02965.hp2 others(4): Show HG01261.hp2 HG02630.hp1 HG02965.hp2 HG03540.hp1 HG03579.hp2 NA18522.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0041 a0001c0001t0009g0150 a0001c0001t0009g0151 others(3): Show a0001c0001t0009g0041 a0001c0001t0009g0150 a0001c0001t0009g0151 a0001c0001t0009g0152 a0001c0001t0009g0153 a0001c0001t0009g0154	7	406	0.0172	-13	c.636 others(28): Show c.636-346_636-334delGTTTTGTTTTTTT	RSL1D1	ENSG00000171490.13	transcript	ENST00000571133.6	protein_coding	5/8			chr16	TogoVar
RSL1D1_chr16_11828850_11856542	11855946	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG02630.hp1 HG01515.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0203 a0001c0001t0009g0041 a0001c0001t0003g0203 a0001c0001t0009g0041	2	406	0.0049	-13	c.-44 others(24): Show c.-4447_-4435delAAAAAAAAAAAAA	RSL1D1	ENSG00000171490.13	transcript	ENST00000571133.6	protein_coding		4405		chr16	TogoVar
RSPH10B2_chr7_6749103_6803765	6779974	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0026 a0026	a0026c0012 a0026c0012	a0026c0012t0001 a0026c0012t0001	a0026c0012t0001g0099 a0026c0012t0001g0099	1	108	0.0093	-13	c.152 others(30): Show c.1529+258_1529+270delTTTTTTTTTTTTT	RSPH10B2	ENSG00000169402.16	transcript	ENST00000404077.6	protein_coding	13/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
RSPH10B_chr7_5921136_5975689	5969147	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02071.hp1 HG00735.hp1 HG02071.hp1	a0006 a0011 a0006 a0011	a0006c0006 a0011c0021 a0006c0006 a0011c0021	a0006c0006t0001 a0011c0021t0001 a0006c0006t0001 a0011c0021t0001	a0006c0006t0001g0021 a0011c0021t0001g0009 a0006c0006t0001g0021 a0011c0021t0001g0009	2	70	0.0286	-13	c.-20 others(32): Show c.-206+1458_-206+1470delAAAAAAAAAAAAA	RSPH10B	ENSG00000155026.17	transcript	ENST00000404406.6	protein_coding	1/20			chr7	TogoVar
RSPH14_chr22_23054415_23146990	23108577	TGGATCCT others(6): Show TGGATCCTGAGGAG	T T	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	314	0.0032	-13	c.421 others(32): Show c.421+25436_421+25448delCTCCTCAGGATCC	RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding	4/6			chr22	TogoVar
RSPH6A_chr19_45790713_45820308	45794413	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 NA19067.hp2 HG00735.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0020 a0001c0001t0001g0022	2	424	0.0047	-13	c.14 others(24): Show c.1443_*1455delAAAAAAAAAAAAA	RSPH6A	ENSG00000104941.8	transcript	ENST00000221538.8	protein_coding		1299		chr19	TogoVar
RSPH6A_chr19_45790713_45820308	45806670	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0330 a0001c0001t0002g0330	1	424	0.0024	-13	c.889 others(30): Show c.889-1667_889-1655delTTTTTTTTTTTTT	RSPH6A	ENSG00000104941.8	transcript	ENST00000221538.8	protein_coding	2/5			chr19	TogoVar
RSPH6A_chr19_45790713_45820308	45815500	GCCCCGCC others(6): Show GCCCCGCCCCGTCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG02080.hp1 others(21): Show HG00140.hp2 HG00280.hp2 HG02080.hp1 HG02165.hp1 HG02698.hp2 NA18940.hp1 NA18943.hp2 NA18945.hp2 NA18951.hp2 NA18955.hp2 NA18962.hp2 NA18972.hp2 NA18979.hp2 NA18984.hp2 NA18985.hp1 NA18993.hp2 NA18994.hp1 NA19000.hp1 NA19054.hp1 NA19056.hp1 NA19068.hp2 NA19085.hp2 NA19089.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0043 a0001c0001t0001g0044 others(16): Show a0001c0001t0001g0016 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0054 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315	24	424	0.0566	-13	c.-33 others(22): Show c.-337_-325delGGACGGGGCGGGG	RSPH6A	ENSG00000104941.8	transcript	ENST00000221538.8	protein_coding		193		chr19	TogoVar
RSPH6A_chr19_45790713_45820308	45817417	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(102): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp1 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02145.hp2 HG02148.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG02886.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18941.hp2 NA18956.hp1 NA18957.hp2 NA18968.hp1 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp2 NA18989.hp2 NA18991.hp2 NA18999.hp1 NA18999.hp2 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19012.hp2 NA19030.hp2 NA19068.hp1 NA19070.hp1 NA19082.hp2 NA19084.hp1 NA19087.hp1 NA19088.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0010 a0011 a0015	a0001c0001 a0001c0004 a0001c0007 others(6): Show a0001c0001 a0001c0004 a0001c0007 a0001c0019 a0002c0002 a0003c0003 a0010c0014 a0011c0021 a0015c0012	a0001c0001t0001 a0001c0004t0001 a0001c0004t0003 others(7): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0003 a0001c0007t0001 a0001c0019t0001 a0002c0002t0001 a0003c0003t0001 a0010c0014t0001 a0011c0021t0001 a0015c0012t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(77): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0087 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0004t0001g0017 a0001c0004t0001g0064 a0001c0004t0001g0066 a0001c0004t0001g0067 a0001c0004t0001g0069 a0001c0004t0001g0070 a0001c0004t0001g0071 a0001c0004t0003g0047 a0001c0007t0001g0048 a0001c0007t0001g0049 a0001c0007t0001g0050 a0001c0019t0001g0316 a0002c0002t0001g0075 a0002c0002t0001g0296 a0003c0003t0001g0008 a0003c0003t0001g0319 a0003c0003t0001g0320 a0003c0003t0001g0321 a0003c0003t0001g0322 a0003c0003t0001g0323 a0003c0003t0001g0324 a0003c0003t0001g0325 a0003c0003t0001g0326 a0003c0003t0001g0327 a0010c0014t0001g0068 a0011c0021t0001g0318 a0015c0012t0001g0275	105	424	0.2476	-13	c.-22 others(24): Show c.-2254_-2242delAAAAAAAAAAAAA	RSPH6A	ENSG00000104941.8	transcript	ENST00000221538.8	protein_coding		2110		chr19	TogoVar
RSPH9_chr6_43640036_43677600	43649850	TCATTTAA others(6): Show TCATTTAATTTCAG	T T	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0109 a0001c0001t0020g0109	1	342	0.0029	-13	c.228 others(28): Show c.228-521_228-509delTTAATTTCAGCAT	RSPH9	ENSG00000172426.16	transcript	ENST00000372163.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
RSPH9_chr6_43640036_43677600	43656032	CCTTCCCC others(6): Show CCTTCCCCTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01106.hp1 HG01358.hp2 others(11): Show HG01081.hp2 HG01106.hp1 HG01358.hp2 HG01517.hp1 HG01934.hp1 HG02083.hp2 HG02258.hp1 HG02280.hp2 HG02622.hp2 HG02647.hp1 HG02895.hp1 HG02922.hp2 NA18942.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0001t0021	a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0137 others(8): Show a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0137 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0008g0006 a0001c0001t0008g0101 a0001c0001t0010g0098 a0001c0001t0021g0248	14	342	0.0409	-13	c.523 others(28): Show c.523+343_523+355delTTCCCCTTCTTTC	RSPH9	ENSG00000172426.16	transcript	ENST00000372163.5	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
RSPH9_chr6_43640036_43677600	43656057	CTTCTTTC others(6): Show CTTCTTTCCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0063 a0003c0003t0001g0063	1	342	0.0029	-13	c.523 others(28): Show c.523+368_523+380delTCTTTCCCTCCTT	RSPH9	ENSG00000172426.16	transcript	ENST00000372163.5	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
RSPO2_chr8_107894316_108088620	107982006	CAACAAAA others(6): Show CAACAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG02451.hp1 others(4): Show HG01243.hp1 HG01243.hp2 HG02451.hp1 HG02622.hp2 HG02809.hp2 HG03491.hp1 HG03710.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0021 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0021 a0002c0002t0001	a0001c0001t0002g0060 a0001c0001t0004g0234 a0001c0001t0004g0235 others(4): Show a0001c0001t0002g0060 a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0021g0221 a0002c0002t0001g0002 a0002c0002t0001g0053 a0002c0002t0001g0198	7	240	0.0292	-13	c.283 others(30): Show c.283+7037_283+7049delTTTTTTTTTTGTT	RSPO2	ENSG00000147655.12	transcript	ENST00000276659.10	protein_coding	3/5			chr8	TogoVar
RSPO2_chr8_107894316_108088620	108003303	ATATATAT others(6): Show ATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02723.hp1 HG02897.hp1 others(3): Show HG02486.hp2 HG02723.hp1 HG02897.hp1 HG03139.hp2 HG03540.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0084 a0001c0001t0002g0091 a0001c0001t0002g0205 others(3): Show a0001c0001t0002g0084 a0001c0001t0002g0091 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0004g0238	6	240	0.0250	-13	c.95- others(30): Show c.95-14072_95-14060delAAAAATATATATA	RSPO2	ENSG00000147655.12	transcript	ENST00000276659.10	protein_coding	2/5			chr8	TogoVar
RSPO2_chr8_107894316_108088620	108003305	ATATATAT others(6): Show ATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0003 a0001c0001t0017g0003	1	240	0.0042	-13	c.95- others(30): Show c.95-14074_95-14062delAAAAAAATATATA	RSPO2	ENSG00000147655.12	transcript	ENST00000276659.10	protein_coding	2/5			chr8	TogoVar
RSPO2_chr8_107894316_108088620	108003309	ATATTTTT others(6): Show ATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0088 a0002c0002t0001g0088	1	240	0.0042	-13	c.95- others(30): Show c.95-14078_95-14066delAAAAAAAAAAATA	RSPO2	ENSG00000147655.12	transcript	ENST00000276659.10	protein_coding	2/5			chr8	TogoVar

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