Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PLEKHG4B_chr5_87168_194966	165357	C C	CTGACGGG others(191): Show CTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACT AATGCTGTGACGGGGCGGAGCTCACACAGTAATGCTGTGACGGGGCGGAG CTCACACTAATGCTCTGACGGGGCGGAGCTCACAGTAATGCTGTGACGGG GCGGGGCTCACACTAATGCTCTGACGGGGCGGAGCTCACAGTAATGCTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0008 a0008	a0008c0024 a0008c0024	a0008c0024t0022 a0008c0024t0022	a0008c0024t0022g0175 a0008c0024t0022g0175	1	196	0.0051	198	c.347 others(217): Show c.3476+1820_3476+1821insAGCTCACACTAATGCTCTGACGGGGC GGGGCTCACACTAATGCTGTGACGGGGCGGAGCTCACACAGTAATGCTGT GACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACAGTAA TGCTGTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGAGCTCA CAGTAATGCTGTGACGGGGCGG		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
PLIN4_chr19_4497192_4523486	4511725	T T	TTTGGCCA others(191): Show TTTGGCCACATTCGCAGCACCGGTCACCCCACTGCCAAGGGTGTTCTTTG TACCTGTTGCGATATTTTGGGTCGTTTTCAGCCCAGTTTGCACAGCACCC TTGGCCACGTTCACAGCACCGGTGACCCCACTGCAGACAGTGTCCTTGGT ACCGGTCAGCACGGTCTTGGCCGTGTCTACACCCGTCTGGACGGCCCCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(307): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0006 a0007 others(10): Show a0001 a0006 a0007 a0010 a0015 a0016 a0020 a0021 a0024 a0025 a0026 a0027 a0039	a0001c0001 a0001c0002 a0001c0003 others(50): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0011 a0001c0012 a0001c0013 a0001c0016 a0001c0017 a0001c0022 a0001c0025 a0001c0033 a0001c0040 a0001c0044 a0001c0063 a0001c0064 a0001c0065 a0001c0066 a0001c0068 a0001c0069 a0001c0070 a0001c0071 a0001c0072 a0001c0073 a0001c0078 a0001c0080 a0001c0088 a0001c0090 a0001c0100 a0006c0037 a0006c0092 a0006c0093 a0006c0094 a0006c0095 a0006c0096 a0007c0018 a0007c0036 a0007c0086 a0010c0024 a0010c0031 a0015c0029 a0015c0047 a0016c0043 a0016c0084 a0020c0028 a0021c0035 a0024c0091 a0025c0099 a0026c0083 a0027c0059 a0039c0098	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(75): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0021 a0001c0001t0022 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0015 a0001c0002t0032 a0001c0003t0003 a0001c0003t0004 a0001c0004t0001 a0001c0004t0004 a0001c0004t0011 a0001c0004t0016 a0001c0006t0001 a0001c0006t0002 a0001c0007t0003 a0001c0007t0004 a0001c0011t0003 a0001c0012t0003 a0001c0013t0004 a0001c0013t0028 a0001c0016t0002 a0001c0016t0003 a0001c0016t0004 a0001c0017t0001 a0001c0022t0001 a0001c0025t0002 a0001c0025t0003 a0001c0033t0004 a0001c0040t0004 a0001c0044t0011 a0001c0063t0002 a0001c0064t0002 a0001c0065t0004 a0001c0066t0003 a0001c0068t0001 a0001c0069t0004 a0001c0070t0001 a0001c0071t0001 a0001c0072t0001 a0001c0073t0001 a0001c0078t0004 a0001c0080t0003 a0001c0088t0004 a0001c0090t0004 a0001c0100t0003 a0006c0037t0003 a0006c0092t0004 a0006c0093t0001 a0006c0094t0004 a0006c0095t0004 a0006c0096t0004 a0007c0018t0001 a0007c0036t0004 a0007c0086t0003 a0010c0024t0001 a0010c0024t0003 a0010c0024t0015 a0010c0031t0002 a0010c0031t0003 a0015c0029t0011 a0015c0029t0024 a0015c0047t0004 a0016c0043t0001 a0016c0084t0002 a0020c0028t0004 a0021c0035t0002 a0024c0091t0001 a0025c0099t0002 a0026c0083t0002 a0027c0059t0001 a0039c0098t0003	a0001c0001t0001g0260 a0001c0001t0002g0001 a0001c0001t0002g0004 others(194): Show a0001c0001t0001g0260 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0021 a0001c0001t0002g0024 a0001c0001t0002g0033 a0001c0001t0002g0051 a0001c0001t0002g0097 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0172 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0247 a0001c0001t0002g0271 a0001c0001t0003g0002 a0001c0001t0003g0007 a0001c0001t0003g0010 a0001c0001t0003g0042 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0052 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0178 a0001c0001t0003g0182 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0249 a0001c0001t0004g0026 a0001c0001t0004g0168 a0001c0001t0004g0171 a0001c0001t0004g0175 a0001c0001t0004g0270 a0001c0001t0005g0044 a0001c0001t0005g0118 a0001c0001t0005g0120 a0001c0001t0005g0169 a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0005g0179 a0001c0001t0005g0245 a0001c0001t0010g0043 a0001c0001t0010g0176 a0001c0001t0021g0122 a0001c0001t0022g0152 a0001c0002t0001g0003 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0017 a0001c0002t0001g0032 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0134 a0001c0002t0001g0137 a0001c0002t0001g0154 a0001c0002t0001g0205 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0217 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0244 a0001c0002t0001g0246 a0001c0002t0001g0248 a0001c0002t0003g0023 a0001c0002t0003g0218 a0001c0002t0004g0211 a0001c0002t0015g0135 a0001c0002t0032g0212 a0001c0003t0003g0019 a0001c0003t0003g0146 a0001c0003t0003g0233 a0001c0003t0004g0018 a0001c0003t0004g0077 a0001c0003t0004g0078 a0001c0003t0004g0108 a0001c0003t0004g0115 a0001c0003t0004g0145 a0001c0003t0004g0153 a0001c0003t0004g0229 a0001c0003t0004g0230 a0001c0003t0004g0231 a0001c0003t0004g0232 a0001c0004t0001g0006 a0001c0004t0001g0038 a0001c0004t0001g0039 a0001c0004t0001g0049 a0001c0004t0001g0143 a0001c0004t0001g0228 a0001c0004t0004g0144 a0001c0004t0011g0107 a0001c0004t0016g0055 a0001c0006t0001g0034 a0001c0006t0001g0035 a0001c0006t0001g0099 a0001c0006t0001g0128 a0001c0006t0001g0129 a0001c0006t0001g0155 a0001c0006t0002g0186 a0001c0007t0003g0194 a0001c0007t0003g0195 a0001c0007t0003g0196 a0001c0007t0004g0022 a0001c0007t0004g0192 a0001c0007t0004g0193 a0001c0007t0004g0269 a0001c0011t0003g0187 a0001c0011t0003g0188 a0001c0011t0003g0189 a0001c0011t0003g0190 a0001c0011t0003g0191 a0001c0012t0003g0013 a0001c0012t0003g0227 a0001c0013t0004g0014 a0001c0013t0028g0261 a0001c0016t0002g0224 a0001c0016t0002g0225 a0001c0016t0003g0140 a0001c0016t0004g0139 a0001c0017t0001g0030 a0001c0017t0001g0101 a0001c0017t0001g0102 a0001c0022t0001g0041 a0001c0022t0001g0156 a0001c0025t0002g0204 a0001c0025t0003g0112 a0001c0025t0003g0203 a0001c0033t0004g0040 a0001c0040t0004g0056 a0001c0044t0011g0075 a0001c0063t0002g0165 a0001c0064t0002g0170 a0001c0065t0004g0177 a0001c0066t0003g0197 a0001c0068t0001g0206 a0001c0069t0004g0216 a0001c0070t0001g0207 a0001c0071t0001g0136 a0001c0072t0001g0138 a0001c0073t0001g0226 a0001c0078t0004g0142 a0001c0080t0003g0147 a0001c0088t0004g0262 a0001c0090t0004g0264 a0001c0100t0003g0151 a0006c0037t0003g0053 a0006c0092t0004g0250 a0006c0093t0001g0242 a0006c0094t0004g0251 a0006c0095t0004g0257 a0006c0096t0004g0243 a0007c0018t0001g0050 a0007c0018t0001g0237 a0007c0018t0001g0238 a0007c0036t0004g0239 a0007c0036t0004g0240 a0007c0086t0003g0236 a0010c0024t0001g0201 a0010c0024t0003g0202 a0010c0024t0015g0133 a0010c0031t0002g0164 a0010c0031t0003g0163 a0015c0029t0011g0065 a0015c0029t0024g0083 a0015c0047t0004g0081 a0016c0043t0001g0076 a0016c0084t0002g0149 a0020c0028t0004g0054 a0021c0035t0002g0234 a0021c0035t0002g0235 a0024c0091t0001g0150 a0025c0099t0002g0241 a0026c0083t0002g0148 a0027c0059t0001g0157 a0039c0098t0003g0252	310	401	0.7731	198	c.223 others(207): Show c.2234_2235insGGGGGCCGTCCAGACGGGTGTAGACACGGCCAAGAC CGTGCTGACCGGTACCAAGGACACTGTCTGCAGTGGGGTCACCGGTGCTG TGAACGTGGCCAAGGGTGCTGTGCAAACTGGGCTGAAAACGACCCAAAAT ATCGCAACAGGTACAAAGAACACCCTTGGCAGTGGGGTGACCGGTGCTGC GAATGTGGCCAA	p.Lys others(211): Show p.Lys745_Gly746insGlyAlaValGlnThrGlyValAspThrAlaLy sThrValLeuThrGlyThrLysAspThrValCysSerGlyValThrGlyA laValAsnValAlaLysGlyAlaValGlnThrGlyLeuLysThrThrGln AsnIleAlaThrGlyThrLysAsnThrLeuGlySerGlyValThrGlyAl aAlaAsnValAlaLys	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/8	2353/6502	2234/4116	745/1371			chr19	TogoVar
PLIN4_chr19_4497192_4523486	4511725	T T	TTTGGCCA others(191): Show TTTGGCCACATTCGCAGCACCGGTCACCCCACTGCCAAGGGTGTTCTTTG TACCTGTTGCGATATTTTGGGTCGTTTTCAGCCCAGTTTGCACAGCACCC TTGGCCACGTTCGCAGCACCGGTGACCCCACTGCAGACAGTGTCCTTGGT ACCGGTCAGCACGGTCTTGGCCGTGTCTACACCCGTCTGGACGGCCCCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02258.hp1 HG02922.hp1 HG03471.hp1 HG02258.hp1 HG02922.hp1 HG03471.hp1	a0014 a0014	a0014c0020 a0014c0020	a0014c0020t0008 a0014c0020t0008	a0014c0020t0008g0015 a0014c0020t0008g0015	3	94	0.0319	198	c.223 others(207): Show c.2234_2235insGGGGGCCGTCCAGACGGGTGTAGACACGGCCAAGAC CGTGCTGACCGGTACCAAGGACACTGTCTGCAGTGGGGTCACCGGTGCTG CGAACGTGGCCAAGGGTGCTGTGCAAACTGGGCTGAAAACGACCCAAAAT ATCGCAACAGGTACAAAGAACACCCTTGGCAGTGGGGTGACCGGTGCTGC GAATGTGGCCAA	p.Lys others(211): Show p.Lys745_Gly746insGlyAlaValGlnThrGlyValAspThrAlaLy sThrValLeuThrGlyThrLysAspThrValCysSerGlyValThrGlyA laAlaAsnValAlaLysGlyAlaValGlnThrGlyLeuLysThrThrGln AsnIleAlaThrGlyThrLysAsnThrLeuGlySerGlyValThrGlyAl aAlaAsnValAlaLys	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/8	2353/6502	2234/4116	745/1371			chr19	TogoVar
PLIN4_chr19_4497192_4523486	4511910	T T	TCTGGACG others(191): Show TCTGGACGGCCCCCTTGGCCACATTCGCAGCACCGGTCACCCCACTGCAC ACAGCATCCTTGGTACCAGTTAACACAGTCTTGGTGGTGTCCATGCCGGT CTGGACAGTCCCTTTGGCCAAGTTCACAGCCCCTGTGAGCCCAGTGGACA CAGCATCTTTAGTGCCAGTCAGGACAGACTTTGTAGTGTCCAGGCCCCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02723.hp2 HG02723.hp2	a0032 a0032	a0032c0056 a0032c0056	a0032c0056t0001 a0032c0056t0001	a0032c0056t0001g0094 a0032c0056t0001g0094	1	408	0.0025	198	c.204 others(207): Show c.2049_2050insGGGGGCCTGGACACTACAAAGTCTGTCCTGACTGGC ACTAAAGATGCTGTGTCCACTGGGCTCACAGGGGCTGTGAACTTGGCCAA AGGGACTGTCCAGACCGGCATGGACACCACCAAGACTGTGTTAACTGGTA CCAAGGATGCTGTGTGCAGTGGGGTGACCGGTGCTGCGAATGTGGCCAAG GGGGCCGTCCAG	p.Gln others(211): Show p.Gln683_Thr684insGlyGlyLeuAspThrThrLysSerValLeuTh rGlyThrLysAspAlaValSerThrGlyLeuThrGlyAlaValAsnLeuA laLysGlyThrValGlnThrGlyMetAspThrThrLysThrValLeuThr GlyThrLysAspAlaValCysSerGlyValThrGlyAlaAlaAsnValAl aLysGlyAlaValGln	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/8	2168/6502	2049/4116	683/1371			chr19	TogoVar
PLIN4_chr19_4497192_4523486	4513132	A A	AGTCACCC others(191): Show AGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCA GTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTACT GGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18955.hp1 NA18990.hp2 NA18955.hp1 NA18990.hp2	a0021 a0021	a0021c0035 a0021c0035	a0021c0035t0002 a0021c0035t0002	a0021c0035t0002g0234 a0021c0035t0002g0235 a0021c0035t0002g0234 a0021c0035t0002g0235	2	9	0.2222	198	c.827 others(205): Show c.827_828insCAGTGCCATGAATGTGGCCAAAGGAACCATCCAGACCG GCGTGGACACCAGTAAGACTGTCCTAACAGGTACCAAGGACACCGTCTGT AGTGGGGTGACTGGTGCCATGAATGTGGCCAAAGGAACCATCCAGACCGG CGTGGACACCAGTAAGACTGTCCTAACAGGTACCAAGGACACCGTCTGTA GTGGGGTGAC	p.Thr others(211): Show p.Thr276_Gly277insSerAlaMetAsnValAlaLysGlyThrIleGl nThrGlyValAspThrSerLysThrValLeuThrGlyThrLysAspThrV alCysSerGlyValThrGlyAlaMetAsnValAlaLysGlyThrIleGln ThrGlyValAspThrSerLysThrValLeuThrGlyThrLysAspThrVa lCysSerGlyValThr	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/8	946/6502	827/4116	276/1371			chr19	TogoVar
POLG_chr15_89311320_89339824	89325037	A A	AGAGTGAG others(191): Show AGAGTGAGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAG AGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAG AGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAG AGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0074	1	277	0.0036	198	c.194 others(215): Show c.1949+412_1949+413insACTCACTCTCTCACTCACTCACTCACTC ACTCTCTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCAC TCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCTCTCACTC ACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCACTCAC TCACTCTCTCACTCTCACTC		POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22						chr15	TogoVar
POR_chr7_75910155_75991855	75988980	G G	GGGGGTGG others(191): Show GGGGGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGAGG GGGGTGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCCGGGTG GGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCGGGGAG GGGGTGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0115 a0001c0002t0001g0115	1	264	0.0038	198	c.24 others(209): Show c.2499_*2500insGGGGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAG GGGAAGGCGGGGAGGGGGGTGTGGAGGGGAAGGCGGGGAGGGGGTGTGGA GGGGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGGA GGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGAGGGGGTGTGGA GGGGAAGGCGGGGA		POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding					2126		chr7	TogoVar
PRDM15_chr21_41793225_41884344	41845119	C C	CCCCCCTC others(191): Show CCCCCCTCACAGGGACACACACACACAGCCCCTCCCCCCTCACAGGGGAC ACACACAGCCCCTCCCCCCTCACAGGGACACACAGCCCCTCCCCCCTCAC AGGGACACACACAGCCCCTCCCCCCTCGCAGGGACACACAGCCCCTCCCC CTCACAGGGACACACAGCCCCTCCCCCCTCACAGGGACACACAGCCCCT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0137 a0001c0005t0007g0137	1	404	0.0025	198	c.640 others(215): Show c.640+1970_640+1971insAGGGGCTGTGTGTCCCTGTGAGGGGGGA GGGGCTGTGTGTCCCTGTGAGGGGGAGGGGCTGTGTGTCCCTGCGAGGGG GGAGGGGCTGTGTGTGTCCCTGTGAGGGGGGAGGGGCTGTGTGTCCCTGT GAGGGGGGAGGGGCTGTGTGTGTCCCCTGTGAGGGGGGAGGGGCTGTGTG TGTGTGTCCCTGTGAGGGGG		PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	6/23						chr21	TogoVar
PRKCZ_chr1_2045411_2190395	2123190	C C	CGGTGGTA others(191): Show CGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGG GTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGT TAGGGTCACGGCGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGGTCACGGCTGTAGTTAGGATCATGGCTGTAGTTAGGGTCAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0126 a0001c0003t0001g0126	1	187	0.0053	198	c.335 others(217): Show c.335-12066_335-12065insAGTTAGGGTCATGGTGGTAGTTAGGG TCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTT AGGGTCACGGCTGTAGTTAGGGTCACGGCGGTAGTTAGGATCATGGCTGT AGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGATCATGG CTGTAGTTAGGGTCATGGTGGT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123430	G G	GGTAGTTA others(191): Show GGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCA CGGCTGTAGTTAGGGTCACGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTC ATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAG GATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	163	0.0061	198	c.335 others(217): Show c.335-11830_335-11829insAGTTAGGATCATGGCTGTAGTTAGGG TCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCACGGTGGTAGTT AGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCTATAGT TGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGGTCACGGCTGTAGT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124119	C C	CTGTAGTT others(191): Show CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGTGGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAG GGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAG TTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0110 a0001c0003t0001g0110	1	124	0.0081	198	c.335 others(217): Show c.335-11143_335-11142insTGTAGTTAGGGTCATGGTGGTAGTTA GGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTA GTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGC TGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATCA TGGCTGTAGTTAGGGTCATGGT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17						chr1	TogoVar
PRPF31_chr19_54110754_54136713	54133984	C C	CACCTCCC others(191): Show CACCTCCCCTCTCTCCCTCCCTCTCTCCACCTTCCCTCTCTCCTCCCCTC TCCCCCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCT CCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCT CCCCTCACTCCACCTTCCCTCTCTCCACCTCCCCTCCCTCTCTCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	212	0.0047	198	c.25 others(209): Show c.2552_*2553insACCTCCCCTCTCTCCCTCCCTCTCTCCACCTTCC CTCTCTCCTCCCCTCTCCCCCTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCT CCCCTCTCTCCACCTCCCCTCACTCCACCTTCCCTCTCTCCACCTCCCCT CCCTCTCTCCACCT		PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding					2272		chr19	TogoVar
PRRC2B_chr9_131389086_131505193	131420493	C C	CTTTCTTT others(191): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	92	0.0109	198	c.-51 others(215): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTTCTTTTTTTTTTTT		PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31					INFO_REALIGN_3_PRIME	chr9	TogoVar
PSMB7_chr9_124348465_124420442	124406657	T T	TTAAAATA others(191): Show TTAAAATAACTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCG CAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	406	0.0025	198	c.396 others(215): Show c.396-1226_396-1225insTTTTATTTTATTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGAGTTATTTTA		PSMB7	ENSG00000136930.13	transcript	ENST00000259457.8	protein_coding	4/7						chr9	TogoVar
PTPN2_chr18_12787152_12889237	12876277	C C	CGAAGAAG others(191): Show CGAAGAAGAAGAAGAAGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGG AGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAA GAGGAGGAAGAGGAGGAGGAGGAGGAAGAGGAAGAGGAAGAGGAAGAGGA AGAGGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	368	0.0027	198	c.69+ others(213): Show c.69+7795_69+7796insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCCT CCTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCC TCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTC TTCTTCTTCTTCTTCTTC		PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	1/8						chr18	TogoVar
PTPN2_chr18_12787152_12889237	12876315	A A	AAGAAGAA others(191): Show AAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAAGAGGAAGAGGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	365	0.0027	198	c.69+ others(213): Show c.69+7757_69+7758insATTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCCTCTTCCTCTTCCTCTTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCC TCTTCTTCTTCTTCTTCT		PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	1/8						chr18	TogoVar
PTPN9_chr15_75458251_75584315	75503576	T T	TCCGTCCG others(191): Show TCCGTCCGGGAGGGAGGTGGGGGCGGTCAGCCCGCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCCCACCCAGCCAGCCGCC CCATCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0132 a0001c0001t0004g0132	1	12	0.0833	198	c.968 others(215): Show c.968+2098_968+2099insGGCGGCTGGCCGGGTGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCC CCCCACCTCCCTCCCGGATGGGGCGGCTGGCTGGGTGGGGGGCTGACTCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGCGGGCTGACCGCC CCCACCTCCCTCCCGGACGG		PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	7/12						chr15	TogoVar
PTPN9_chr15_75458251_75584315	75503576	T T	TCCGTCCG others(191): Show TCCGTCCGGGAGGGAGGTGGGGGCGGTCAGCCCGCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCCCACCCGGCCAGCCGCC CCATCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCC	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA19086.hp1 HG02074.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0166 a0001c0001t0007g0184 a0001c0001t0001g0166 a0001c0001t0007g0184	2	13	0.1538	198	c.968 others(215): Show c.968+2098_968+2099insGGCGGCTGGCCGGGTGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCC CCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGGGGGGCTGACTCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGCGGGCTGACCGCC CCCACCTCCCTCCCGGACGG		PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	7/12						chr15	TogoVar
PTPN9_chr15_75458251_75584315	75503576	T T	TCCGTCCG others(191): Show TCCGTCCGGGAGGGAGGTGGGGGCGGTCAGCCCGCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCCCACCCGGCCAGCCGCC CCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG02258.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0293 a0001c0001t0011g0279 a0001c0001t0002g0293 a0001c0001t0011g0279	2	13	0.1538	198	c.968 others(215): Show c.968+2098_968+2099insGGCGGCTGGCCGGGTGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGGCTGACCC CCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGGGGGGCTGACTCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGCGGGCTGACCGCC CCCACCTCCCTCCCGGACGG		PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	7/12						chr15	TogoVar
PTPN9_chr15_75458251_75584315	75503576	T T	TCCGTCCG others(191): Show TCCGTCCGGGAGGGAGGTGGGGGCGGTCAGCCCGCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCCCACCCGGCCAGCCGCC CCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA19005.hp1 HG00741.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0006g0302 a0001c0002t0001g0174 a0001c0001t0006g0302 a0001c0002t0001g0174	2	13	0.1538	198	c.968 others(215): Show c.968+2098_968+2099insGGCGGCTGGCCGGGTGGGGGGCTGACCC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGGGGGGCTGACTCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGCGGGCTGACCGCC CCCACCTCCCTCCCGGACGG		PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	7/12						chr15	TogoVar
PTPN9_chr15_75458251_75584315	75503576	T T	TCCGTCCG others(191): Show TCCGTCCGGGAGGGAGGTGGGGGCGGTCAGCCCGCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCCCACCCGGCCAGCCGCC CCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0022	1	12	0.0833	198	c.968 others(215): Show c.968+2098_968+2099insGGCGGCTGGCCGGGTGGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGGGGGGCTGACTCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGCGGGCTGACCGCC CCCACCTCCCTCCCGGACGG		PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	7/12						chr15	TogoVar
PTPN9_chr15_75458251_75584315	75503593	T T	TGGGGGCG others(191): Show TGGGGGCGGTCAGCCCGCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGAGTCAGCCCCCCACCCAGCCAGCCGCCCCATCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0142 a0001c0001t0004g0142	1	316	0.0032	198	c.968 others(215): Show c.968+2081_968+2082insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCT GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCTG GGTGGGGGGCTGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGCGGGCTGACCGCCCCC		PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	7/12						chr15	TogoVar
PTPN9_chr15_75458251_75584315	75503593	T T	TGGGGGCG others(191): Show TGGGGGCGGTCAGCCCGCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGAGTCAGCCCCCCACCCGGCCAGCCGCCCCATCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02056.hp2 NA18963.hp2 others(3): Show HG00642.hp2 HG02056.hp2 NA18963.hp2 NA18977.hp2 NA18980.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010	a0001c0001t0001g0072 a0001c0001t0001g0150 a0001c0001t0001g0156 others(3): Show a0001c0001t0001g0072 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0005g0123 a0001c0001t0007g0180 a0001c0001t0010g0003	6	321	0.0187	198	c.968 others(215): Show c.968+2081_968+2082insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCT GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGTGGGGGGCTGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGCGGGCTGACCGCCCCC		PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	7/12						chr15	TogoVar
PTPRT_chr20_42067756_43194906	42508951	T T	TATTTAAT others(191): Show TATTTAATTTATAGATATAAATTATATAATTTACATTTAATTTATAGATA TAAATTATATAATTTACATTTAATTTATAGATATAAATTATATAATTTAC ATTTAATTTATAGATATAAATTATATAATTTACATTTAATTTATAGATAT AAATTATATAATTTACATTTAATTTATAGATATAAATTATATAATTTAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03209.hp1 HG03540.hp1 HG02886.hp1 HG03209.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0001 a0001c0003t0029 a0001c0008t0005 a0001c0003t0001 a0001c0003t0029 a0001c0008t0005	a0001c0003t0001g0038 a0001c0003t0029g0048 a0001c0008t0005g0037 a0001c0003t0001g0038 a0001c0003t0029g0048 a0001c0008t0005g0037	3	46	0.0652	198	c.115 others(219): Show c.1154-36390_1154-36389insGTAAATTATATAATTTATATCTAT AAATTAAATGTAAATTATATAATTTATATCTATAAATTAAATGTAAATTA TATAATTTATATCTATAAATTAAATGTAAATTATATAATTTATATCTATA AATTAAATGTAAATTATATAATTTATATCTATAAATTAAATGTAAATTAT ATAATTTATATCTATAAATTAAAT		PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30						chr20	TogoVar
PWWP2B_chr10_132392200_132422859	132419509	A A	AGGAAGTC others(191): Show AGGAAGTCTGGAGGAGGGGGTCTCCTGGGGGGGGGCCTGGAGGAGGGGTC TCCTGGGGGGGGGCCTGGAGGAGGGGTCTCCTGGGGGGGGGCCTGGAGGA GGGGTCTCCTGGGGGGGGCCTGGAGGAGGGGTCTCCTGGGGGGGGGGCCT GGAGGAGGGGTCTCCTGGGGGGGGGCCTGGAGGAGGGGTCTCCTGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02895.hp2 HG02055.hp2 HG02895.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0075 a0003c0010t0001g0202 a0003c0010t0001g0075 a0003c0010t0001g0202	2	302	0.0066	198	c.24 others(209): Show c.2465_*2466insGGAAGTCTGGAGGAGGGGGTCTCCTGGGGGGGGG CCTGGAGGAGGGGTCTCCTGGGGGGGGGCCTGGAGGAGGGGTCTCCTGGG GGGGGGCCTGGAGGAGGGGTCTCCTGGGGGGGGCCTGGAGGAGGGGTCTC CTGGGGGGGGGGCCTGGAGGAGGGGTCTCCTGGGGGGGGGCCTGGAGGAG GGGTCTCCTGGGGG		PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding					1651		chr10	TogoVar
PXDN_chr2_1626887_1749515	1719898	C C	CAGAGAGA others(191): Show CAGAGAGAGAGGGAGGGATGCAGAGAGAGAGGGAGGGAGGGATGCAGAGA GAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGA GAGAGAGGGAGGGAGGGATGCAGAGAGAGGGAGGGAGGGATGCAGAGAGA GAGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAGGGATGCAGAG	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA19056.hp2 NA18967.hp1 NA19056.hp2	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0001 a0005c0017t0001	a0005c0017t0001g0127 a0005c0017t0001g0128 a0005c0017t0001g0127 a0005c0017t0001g0128	2	259	0.0077	198	c.200 others(217): Show c.200+24357_200+24358insCTCTGCATCCCTCCCTCCCTCTCTCT CTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCT CTGCATCCCTCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCT CTCTGCATCCCTCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCT CTGCATCCCTCCCTCTCTCTCT		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22						chr2	TogoVar
RAB11FIP3_chr16_420649_528011	467922	G G	GTCAGGGA others(191): Show GTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAG GTGCTGGGACGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTG GGGCCTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCC	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18954.hp1 NA18966.hp1 NA18939.hp1 NA18954.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0180 a0001c0001t0003g0219 a0001c0001t0004g0053 a0001c0001t0003g0180 a0001c0001t0003g0219 a0001c0001t0004g0053	3	263	0.0114	198	c.809 others(215): Show c.809-3352_809-3351insCTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAG GTGCTGGGACGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTG GGGCCTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCCT CAGGGAGGAGGTGCAGGGGC		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	467922	G G	GTCAGGGA others(191): Show GTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAG GTGCTGGGACGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTG GGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGGCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02145.hp2 HG02622.hp2 others(3): Show HG00323.hp2 HG02145.hp2 HG02622.hp2 NA18612.hp2 NA18943.hp1 NA19007.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0010 a0001c0001 a0001c0002 a0005c0010	a0001c0001t0004 a0001c0001t0028 a0001c0002t0009 others(1): Show a0001c0001t0004 a0001c0001t0028 a0001c0002t0009 a0005c0010t0005	a0001c0001t0004g0058 a0001c0001t0004g0178 a0001c0001t0028g0091 others(3): Show a0001c0001t0004g0058 a0001c0001t0004g0178 a0001c0001t0028g0091 a0001c0002t0009g0084 a0001c0002t0009g0206 a0005c0010t0005g0083	6	266	0.0226	198	c.809 others(215): Show c.809-3352_809-3351insCTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAG GTGCTGGGACGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTG GGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGGCCT CAGGGAGGAGGTGCAGGGGC		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	467960	T T	TGGGGCGT others(191): Show TGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGAC GTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGG GAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0065 a0001c0001t0005g0065	1	246	0.0041	198	c.809 others(215): Show c.809-3314_809-3313insAGGGGCCTCAGGGAGGAGGTGCTGGGAC GTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGG GAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAG GGGCGTCAGGGAGGAGGTGC		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB31_chr18_9703301_9867551	9809075	T T	TGCGAGCA others(191): Show TGCGAGCACATAAGGCAGTACAGGATGGGAAAACAAGTGTAGTGCACACT ACACGGAAGGCGAGAGCCTCCATCCTGAGCCTGTTTTTACCTTGGCCGTG AGCTCTGGAGGGTTGTCACAGAGCTGGAAAAACCTCAGCTTTGTGTCTGA CCCCACCCACTGCACCAGTTTCACAAAATAAGAAAAGTAGGACGCGTGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00558.hp2 others(77): Show HG00323.hp2 HG00408.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02155.hp1 HG02300.hp1 HG02300.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02818.hp1 HG03017.hp2 HG03540.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18945.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18963.hp2 NA18970.hp1 NA18982.hp1 NA18984.hp2 NA18991.hp1 NA18992.hp2 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19005.hp1 NA19010.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19077.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19087.hp2 NA19088.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0026 a0001c0001t0033 a0001c0001t0034 a0001c0001t0039 a0001c0001t0040	a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0034 others(77): Show a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0066 a0001c0001t0001g0103 a0001c0001t0001g0119 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0156 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0183 a0001c0001t0001g0195 a0001c0001t0001g0220 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0248 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0307 a0001c0001t0001g0314 a0001c0001t0002g0012 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0024 a0001c0001t0002g0040 a0001c0001t0002g0045 a0001c0001t0002g0054 a0001c0001t0002g0102 a0001c0001t0002g0122 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0163 a0001c0001t0002g0168 a0001c0001t0002g0278 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0295 a0001c0001t0002g0305 a0001c0001t0002g0320 a0001c0001t0003g0036 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0052 a0001c0001t0003g0313 a0001c0001t0004g0013 a0001c0001t0004g0037 a0001c0001t0004g0092 a0001c0001t0005g0197 a0001c0001t0005g0199 a0001c0001t0005g0204 a0001c0001t0005g0268 a0001c0001t0006g0047 a0001c0001t0006g0222 a0001c0001t0006g0253 a0001c0001t0007g0131 a0001c0001t0007g0137 a0001c0001t0009g0027 a0001c0001t0009g0311 a0001c0001t0010g0245 a0001c0001t0011g0021 a0001c0001t0011g0277 a0001c0001t0012g0086 a0001c0001t0016g0235 a0001c0001t0017g0249 a0001c0001t0026g0083 a0001c0001t0033g0101 a0001c0001t0034g0193 a0001c0001t0039g0302 a0001c0001t0040g0303	80	320	0.2500	198	c.202 others(215): Show c.202-4754_202-4753insCGCGTGCGCGAGCACATAAGGCAGTACA GGATGGGAAAACAAGTGTAGTGCACACTACACGGAAGGCGAGAGCCTCCA TCCTGAGCCTGTTTTTACCTTGGCCGTGAGCTCTGGAGGGTTGTCACAGA GCTGGAAAAACCTCAGCTTTGTGTCTGACCCCACCCACTGCACCAGTTTC ACAAAATAAGAAAAGTAGGA		RAB31	ENSG00000168461.13	transcript	ENST00000578921.6	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(191): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCATC CCCACCAGGCTCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCAC CATCCCCACCAGGCCTACCAGGCCCACCATCCCCATCAGGCCCACCAGG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0129 a0001c0005t0005g0129	1	119	0.0084	198	c.397 others(211): Show c.397-73_397-72insCCTGGTGGGCCTGATGGGGATGGTGGGCCTGG TAGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGC CTGGTGAGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGT GGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCC TGGTGGGGATGGTGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(191): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCAGGCCCACCATC CCCACCATCCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCAC CATCCCCATCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	119	0.0084	198	c.397 others(211): Show c.397-73_397-72insCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGG TGGGCCTGATGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGC CTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGT GGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCC TGGTGGGGATGGTGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RAE1_chr20_57346255_57384202	57350857	C C	CGGGGGAC others(191): Show CGGGGGACGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGGACGGGGGGCG GGGGGGACGGGGGGCGGGGGGGGCGGGGGGGACGGGGGGCGGGGGGGACG GGGGGCGGGGGGGGCGGGGGGGGCGGGGGGCGGGGGGGGGCGGGGGGGAC GGGGGGCGGGGGGGACGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	209	0.0048	198	c.-57 others(207): Show c.-573_-572insGGGGGACGGGGGGCGGGGGGGGCGGGGGGGGCGGGG GGGACGGGGGGCGGGGGGGACGGGGGGCGGGGGGGGCGGGGGGGACGGGG GGCGGGGGGGACGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGCGGGGGG GGGCGGGGGGGACGGGGGGCGGGGGGGACGGGGGGCGGGGGGGGCGGGGG GGGCGGGGGGCG		RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding					397		chr20	TogoVar
RALGAPA2_chr20_20384530_20717644	20458776	A A	ATATATAT others(191): Show ATATATATATAGACCTATATATATATAGACCTATATATATATAGACCTAT ATATATATAGACCTATATATATATAGACCTATATATATATAGACCTATAT ATATAGACCTATATATATATAGACCTATATATATAGACCTATATATATAT AGACCTATATATATAGACCTATATATATATAGACCTATATATATAGACC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG03490.hp2 NA18963.hp1 others(1): Show HG02129.hp1 HG03490.hp2 NA18963.hp1 NA19062.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0003t0030 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0003t0030 a0002c0002t0004	a0001c0001t0001g0019 a0001c0001t0005g0002 a0001c0003t0030g0077 others(1): Show a0001c0001t0001g0019 a0001c0001t0005g0002 a0001c0003t0030g0077 a0002c0002t0004g0102	4	61	0.0656	198	c.549 others(219): Show c.5495+14052_5495+14053insGGTCTATATATATAGGTCTATATA TATATAGGTCTATATATATAGGTCTATATATATATAGGTCTATATATATA GGTCTATATATATATAGGTCTATATATATAGGTCTATATATATATAGGTC TATATATATATAGGTCTATATATATATAGGTCTATATATATATAGGTCTA TATATATATAGGTCTATATATATA		RALGAPA2	ENSG00000188559.16	transcript	ENST00000202677.12	protein_coding	37/39						chr20	TogoVar
RALGAPA2_chr20_20384530_20717644	20458790	C C	CTATATAT others(191): Show CTATATATATATAGACCTATATATATATAGACCTATATATATAGACCTAT ATATATAGACCTATATATATATAGACCTATATATATAGACCTATATATAT ATAGACCTATATATATAGACCTATATATATATAGACCTATATATATAGAC CTATATATATAGACCTATATATATATAGACCTATATATATATAGACCTA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0017 a0001c0001t0010g0017	1	107	0.0093	198	c.549 others(219): Show c.5495+14038_5495+14039insTAGGTCTATATATATATAGGTCTA TATATATATAGGTCTATATATATAGGTCTATATATATAGGTCTATATATA TATAGGTCTATATATATAGGTCTATATATATATAGGTCTATATATATAGG TCTATATATATATAGGTCTATATATATAGGTCTATATATATAGGTCTATA TATATATAGGTCTATATATATATA		RALGAPA2	ENSG00000188559.16	transcript	ENST00000202677.12	protein_coding	37/39						chr20	TogoVar
RASA3_chr13_113972783_114137623	114044482	G G	GCCCCCCC others(191): Show GCCCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACTC GCTGAGCTCCCCCCCCCGCCTCACTCGCTGAGCTCCCCCCCCCGCCTCAC TCGCTGAGCTCCCCCCCCCCGCCTCACTCGCTGAGCTCCCCCCCCCGCCT CACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0061 a0001c0002t0002g0061	1	30	0.0333	198	c.278 others(215): Show c.278-3389_278-3388insGGGCGGGGGGGCTCAGCGAGTGAGGCGG GGCGGGGGGGCTCAGCGAGTGAGGCGGGGGGGGGAGCTCAGCGAGTGAGG CGGGGGGGGGGAGCTCAGCGAGTGAGGCGGGGGGGGGAGCTCAGCGAGTG AGGCGGGGGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAG TGAGGCGGGGCGGGGGGGGG		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114069825	C C	CAGGAGAC others(191): Show CAGGAGACTCAGGGGGCCAGGAGACTCAGGGGCCAGGAGACTCGGGGGTT GGGAGACTGGGGGGTGGGAGACTGGGGGGTGGGAGACTGGGGGGTGGGAG ACCGGGGGGAAGGGAGACTCGGGGACTGGGAGACTCAGGGAGCCGGGAAA CTGGGGGGGCCGGGAAACTGGGGGTCCAGGAGACTCGGGGGGCCGGGAG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0016 a0001c0005t0001g0016	1	22	0.0455	198	c.173 others(215): Show c.173+3894_173+3895insCTCCCGGCCCCCCGAGTCTCCTGGACCC CCAGTTTCCCGGCCCCCCCAGTTTCCCGGCTCCCTGAGTCTCCCAGTCCC CGAGTCTCCCTTCCCCCCGGTCTCCCACCCCCCAGTCTCCCACCCCCCAG TCTCCCACCCCCCAGTCTCCCAACCCCCGAGTCTCCTGGCCCCTGAGTCT CCTGGCCCCCTGAGTCTCCT		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	2/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114133804	C C	CCCCCCCC others(191): Show CCCCCCCCCAGTCCCCCTGCAGACCCCGGCATGAGCAGGTCCCCCCCAGT CCCCCTGCAGACCCCGGCATGAGCAGGTCCCCCCCCCAAGTCCCCTTGCA GACCCCGGCATGGGCAGGTCCCCCCCCAAGTCCCCTTGCAGACCCCGGCA TGGGCAGGTCCCCCCCCAAGTCCCCCTGCAGACCCCGGCATGGGCAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG01361.hp1 HG00621.hp1 HG01361.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0002 a0001c0001t0001 a0003c0006t0002	a0001c0001t0001g0065 a0003c0006t0002g0053 a0001c0001t0001g0065 a0003c0006t0002g0053	2	66	0.0303	198	c.-13 others(209): Show c.-1316_-1315insACCTGCCCATGCCGGGGTCTGCAGGGGGACTTGG GGGGGGACCTGCCCATGCCGGGGTCTGCAAGGGGACTTGGGGGGGGACCT GCCCATGCCGGGGTCTGCAAGGGGACTTGGGGGGGGGACCTGCTCATGCC GGGGTCTGCAGGGGGACTGGGGGGGACCTGCTCATGCCGGGGTCTGCAGG GGGACTGGGGGGGG		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding					1182		chr13	TogoVar
RASA3_chr13_113972783_114137623	114133812	A A	AGTCCCCC others(191): Show AGTCCCCCTGCAGACCCCGGCATGAGCAGGTCCCCCCCAGTCCCCCTGCA GACCCCGGCATGAGCAGGTCCCCCCCCCAAGTCCCCTTGCAGACCCCGGC ATGGGCAGGTCCCCCCCCAAGTCCCCTTGCAGACCCCGGCATGGGCAGGT CCCCCCCCCAAGTCCCCCTGCAGACCCCGGCATGGGCAGGTCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	54	0.0185	198	c.-13 others(209): Show c.-1324_-1323insGGGGGGGGACCTGCCCATGCCGGGGTCTGCAGGG GGACTTGGGGGGGGGACCTGCCCATGCCGGGGTCTGCAAGGGGACTTGGG GGGGGACCTGCCCATGCCGGGGTCTGCAAGGGGACTTGGGGGGGGGACCT GCTCATGCCGGGGTCTGCAGGGGGACTGGGGGGGACCTGCTCATGCCGGG GTCTGCAGGGGGAC		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding					1190		chr13	TogoVar
RASA3_chr13_113972783_114137623	114133812	A A	AGTCCCCC others(191): Show AGTCCCCCTGCAGACCCCGGCATGAGCAGGTCCCCCCCAGTCCCCCTGCA GACCCCGGCATGAGCAGGTCCCCCCCCCCAAGTCCCCTTGCAGACCCCGG CATGGGCAGGTCCCCCCCCAAGTCCCCTTGCAGACCCCGGCATGGGCAGG TCCCCCCCCAAGTCCCCCTGCAGACCCCGGCATGGGCAGGTCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0055 a0001c0002t0002g0055	1	54	0.0185	198	c.-13 others(209): Show c.-1324_-1323insGGGGGGGGACCTGCCCATGCCGGGGTCTGCAGGG GGACTTGGGGGGGGACCTGCCCATGCCGGGGTCTGCAAGGGGACTTGGGG GGGGACCTGCCCATGCCGGGGTCTGCAAGGGGACTTGGGGGGGGGGACCT GCTCATGCCGGGGTCTGCAGGGGGACTGGGGGGGACCTGCTCATGCCGGG GTCTGCAGGGGGAC		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding					1190		chr13	TogoVar
RASA3_chr13_113972783_114137623	114133812	A A	AGTCCCCC others(191): Show AGTCCCCCTGCAGACCCCGGCATGAGCAGGTCCCCCCCCAGTCCCCCTGC AGACCCCGGCATGAGCAGGTCCCCCCCCCAAGTCCCCTTGCAGACCCCGG CATGGGCAGGTCCCCCCCCAAGTCCCCTTGCAGACCCCGGCATGGGCAGG TCCCCCCCCAAGTCCCCCTGCAGACCCCGGCATGGGCAGGTCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	54	0.0185	198	c.-13 others(209): Show c.-1324_-1323insGGGGGGGGACCTGCCCATGCCGGGGTCTGCAGGG GGACTTGGGGGGGGACCTGCCCATGCCGGGGTCTGCAAGGGGACTTGGGG GGGGACCTGCCCATGCCGGGGTCTGCAAGGGGACTTGGGGGGGGGACCTG CTCATGCCGGGGTCTGCAGGGGGACTGGGGGGGGACCTGCTCATGCCGGG GTCTGCAGGGGGAC		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding					1190		chr13	TogoVar
RBBP8NL_chr20_62405237_62432539	62422602	T T	TGGGGTGG others(191): Show TGGGGTGGGGATGGGGCCCGGGGTGGGGACAGGGCCCGGGGTGGGGATGG GGACTGGGGTGGGGACGGGGCCCGGGGTGGGGACGGGGCCCGGGGTGGGG ATGGGGACTGGGGTGGGGACGGGGCCCGGGGTGGGGACGGGGCCCGGGGT GGGGATGGCGACTGGGGTGGGGATGGCCACTGGGGTGGGAATGGGGCCC	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	222	0.0045	198	c.-83 others(215): Show c.-83-2873_-83-2872insGGGCCCCATTCCCACCCCAGTGGCCATC CCCACCCCAGTCGCCATCCCCACCCCGGGCCCCGTCCCCACCCCGGGCCC CGTCCCCACCCCAGTCCCCATCCCCACCCCGGGCCCCGTCCCCACCCCGG GCCCCGTCCCCACCCCAGTCCCCATCCCCACCCCGGGCCCTGTCCCCACC CCGGGCCCCATCCCCACCCC		RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding	1/13						chr20	TogoVar
RBFOX3_chr17_79084345_79616051	79138729	G G	GCACACAC others(191): Show GCACACACACAGCACATGCATTCACACCCCCTCACCCATACATATGCACA CGCACATGTTCATGCCCCCCTCACCCACACATGCACACACAGCACATGCG TTCACACCCCCTTCACCCATGCACGCACACAGCACATGCGTTCACACCCT CACCCACACACGCATGCACACAGCACGTGTTCACACCACCATCCACAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	151	0.0066	198	c.-33 others(217): Show c.-33-22982_-33-22981insTTTGTGGATGGTGGTGTGAACACGTG CTGTGTGCATGCGTGTGTGGGTGAGGGTGTGAACGCATGTGCTGTGTGCG TGCATGGGTGAAGGGGGTGTGAACGCATGTGCTGTGTGTGCATGTGTGGG TGAGGGGGGCATGAACATGTGCGTGTGCATATGTATGGGTGAGGGGGTGT GAATGCATGTGCTGTGTGTGTG		RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14						chr17	TogoVar
RFX3_chr9_3213297_3531001	3467137	T T	TGTATATA others(191): Show TGTATATACATACATATATGTAAGTATATATGTATATACATACATATATG TAAGTATATATGTATATACATACATATATGTAAGTATATATGTATATACA TACATATATGTAAGTATATATGTATATACATATATGTAAGTATATATGTA TATACATATATATTATGTATATATGTATATACATATATTATGTATATAC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0048 a0001c0001t0004g0048	1	190	0.0053	198	c.-9+ others(215): Show c.-9+58609_-9+58610insGTATATACATAATATATGTATATACATA TATACATAATATATATGTATATACATATATACTTACATATATGTATATAC ATATATACTTACATATATGTATGTATATACATATATACTTACATATATGT ATGTATATACATATATACTTACATATATGTATGTATATACATATATACTT ACATATATGTATGTATATAC		RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16						chr9	TogoVar
RGS20_chr8_53846795_53964303	53949199	C C	CTATATAA others(191): Show CTATATAAGATACAGTATATATTTATATATACTATATATAAGATACAGTA TATATTTATATATACTATATATAAGATACAGTATATATTTATATATACTA TATATAAGATACAGTATATATTTATATATACTATATATAAGATACAGTAT ATATTTATATATACTATATATAAGATACAGTATATATTTATATATACTA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	44	0.0227	198	c.743 others(215): Show c.743+2571_743+2572insTTATATATACTATATATAAGATACAGTA TATATTTATATATACTATATATAAGATACAGTATATATTTATATATACTA TATATAAGATACAGTATATATTTATATATACTATATATAAGATACAGTAT ATATTTATATATACTATATATAAGATACAGTATATATTTATATATACTAT ATATAAGATACAGTATATAT		RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
RGS20_chr8_53846795_53964303	53949199	C C	CTATATAA others(191): Show CTATATAAGATACAGTATATATTTATATATACTCTATATAAGATACAGTA TATATTTATATATACTATATATAAGATACAGTATATATTTATATATACTA TATATAAGATACAGTATATATTTATATATACTATATATAAGATACAGTAT ATATTTATATATACTATATATAAGATACAGTATATATTTATATATACTA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0208 a0001c0001t0011g0208	1	44	0.0227	198	c.743 others(215): Show c.743+2483_743+2484insCTATATAAGATACAGTATATATTTATAT ATACTATATATAAGATACAGTATATATTTATATATACTATATATAAGATA CAGTATATATTTATATATACTATATATAAGATACAGTATATATTTATATA TACTATATATAAGATACAGTATATATTTATATATACTATATATAAGATAC AGTATATATTTATATATACT		RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
RIPK4_chr21_41734373_41772052	41736022	A A	ACTTCTTC others(191): Show ACTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0094 a0001c0002t0006g0094	1	255	0.0039	198	c.48 others(209): Show c.4815_*4816insAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAG		RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding					3350		chr21	TogoVar
RIPOR3_chr20_50581108_50696542	50666223	T T	TTTTCTTT others(191): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0085 a0002c0002t0002g0085	1	234	0.0043	198	c.3+2 others(213): Show c.3+24902_3+24903insGAAAAGAAAAGAAAAAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAA		RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21						chr20	TogoVar
RNASE10_chr14_20500537_20518884	20505259	T T	TCTCTCCC others(191): Show TCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0094 a0001c0001t0082g0094	1	377	0.0027	198	c.-76 others(207): Show c.-766_-765insCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCC		RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding					277		chr14	TogoVar
RNASE10_chr14_20500537_20518884	20505260	T T	TTCTCCCT others(191): Show TTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0075 a0001c0001t0010g0075	1	347	0.0029	198	c.-76 others(207): Show c.-765_-764insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCC		RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding					276		chr14	TogoVar

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